3-48884820-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48884820
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48884820
    reference: chr 3
allele count: 1
allele frequency: 1.074968288435491e-5
allele num: 93026
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.210T>C
  hgvsp: ENST00000454963.1:c.210T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.210T>C
  hgvsp: ENST00000296446.8:c.210T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.210T>C
  hgvsp: ENST00000419216.1:c.210T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.210T>C
  hgvsp: ENST00000265563.8:c.210T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13695
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13683
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21917
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4351
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2304
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg70Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

3-48884825-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48884825
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48884825
    reference: chr 3
allele count: 1
allele frequency: 1.145816623507574e-5
allele num: 87274
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.205G>C
  hgvsp: ENSP00000394041.1:p.Asp69His
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.205G>C
  hgvsp: ENSP00000411432.1:p.Asp69His
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.205G>C
  hgvsp: ENSP00000265563.8:p.Asp69His
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.205G>C
  hgvsp: ENSP00000296446.8:p.Asp69His
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9320
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3262
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13901
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15963
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18805
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 304
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 176
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genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 479
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genotype quality: GenotypeQuality
  all individuals: 480
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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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
  all individuals: 18
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genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp69His
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

3-48884826-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48884826
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48884826
    reference: chr 3
allele count: 3
allele frequency: 3.48052068589461e-5
allele num: 86194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.204G>A
  hgvsp: ENST00000454963.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.204G>A
  hgvsp: ENST00000296446.8:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.204G>A
  hgvsp: ENST00000265563.8:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.204G>A
  hgvsp: ENST00000419216.1:c.204G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16284
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10685
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 14236
  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 2.5e0
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 83
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genotype quality: GenotypeQuality
  all individuals: 464
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  variant carriers: 0
hgvs: p.Pro68Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

3-48884827-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48884827
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48884827
    reference: chr 3
allele count: 2
allele frequency: 2.35626767200754e-5
allele num: 84880
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.203C>T
  hgvsp: ENSP00000265563.8:p.Pro68Leu
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.203C>T
  hgvsp: ENSP00000411432.1:p.Pro68Leu
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.203C>T
  hgvsp: ENSP00000296446.8:p.Pro68Leu
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.203C>T
  hgvsp: ENSP00000394041.1:p.Pro68Leu
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2842
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 73
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3199
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro68Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

3-48884834-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48884834
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48884834
    reference: chr 3
allele count: 1
allele frequency: 1.342750490103929e-5
allele num: 74474
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.196C>T
  hgvsp: ENSP00000394041.1:p.Pro66Ser
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.196C>T
  hgvsp: ENSP00000411432.1:p.Pro66Ser
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.196C>T
  hgvsp: ENSP00000296446.8:p.Pro66Ser
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.196C>T
  hgvsp: ENSP00000265563.8:p.Pro66Ser
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18648
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17890
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29923
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3478
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11632
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5082
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro66Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

3-48884834-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48884834
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48884834
    reference: chr 3
allele count: 3
allele frequency: 4.028251470311787e-5
allele num: 74474
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.196C>A
  hgvsp: ENSP00000411432.1:p.Pro66Thr
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.196C>A
  hgvsp: ENSP00000296446.8:p.Pro66Thr
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.196C>A
  hgvsp: ENSP00000394041.1:p.Pro66Thr
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.196C>A
  hgvsp: ENSP00000265563.8:p.Pro66Thr
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4045
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18648
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17890
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7295
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5082
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1294
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29923
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3478
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 900
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
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genotype quality: GenotypeQuality
  all individuals: 263
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genotype quality: GenotypeQuality
  all individuals: 11632
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1564
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Pro66Thr
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

3-48884840-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48884840
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48884840
    reference: chr 3
allele count: 1
allele frequency: 1.498262016061369e-5
allele num: 66744
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.190C>T
  hgvsp: ENSP00000265563.8:p.Pro64Ser
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.190C>T
  hgvsp: ENSP00000394041.1:p.Pro64Ser
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.190C>T
  hgvsp: ENSP00000411432.1:p.Pro64Ser
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.190C>T
  hgvsp: ENSP00000296446.8:p.Pro64Ser
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3795
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4544
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 775
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5890
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19862
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18371
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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genotype depth: GenotypeDepth
  all individuals: 3
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genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3434
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 30044
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6527
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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: 1187
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genotype quality: GenotypeQuality
  all individuals: 30
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8999
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro64Ser
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/3-48884841-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48884841
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48884841
    reference: chr 3
allele count: 143
allele frequency: 2.19304971935098e-3
allele num: 65206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.189G>T
  hgvsp: ENST00000296446.8:c.189G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.189G>T
  hgvsp: ENST00000419216.1:c.189G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.189G>T
  hgvsp: ENST00000454963.1:c.189G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.189G>T
  hgvsp: ENST00000265563.8:c.189G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20005
  bin: 7.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 6712
  bin: 2.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4534
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18349
  bin: 1.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3695
  bin: 1.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 3283
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 9.75e1
  variant carriers: 135
genotype quality: GenotypeQuality
  all individuals: 2658
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9061
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30047
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6689
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.25e1
  variant carriers: 2
hgvs: p.Pro63Pro
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

3-48884841-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48884841
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48884841
    reference: chr 3
allele count: 7
allele frequency: 1.07352084164034e-4
allele num: 65206
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.189G>A
  hgvsp: ENST00000265563.8:c.189G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.189G>A
  hgvsp: ENST00000296446.8:c.189G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.189G>A
  hgvsp: ENST00000419216.1:c.189G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.189G>A
  hgvsp: ENST00000454963.1:c.189G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3695
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4534
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20005
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6712
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18349
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6689
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9061
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3283
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2658
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30047
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 1.25e1
  variant carriers: 1
hgvs: p.Pro63Pro
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ

3-48884841-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48884841
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48884840
    reference: chr 3
allele count: 1
allele frequency: 1.533601202343343e-5
allele num: 65206
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.188delC
  hgvsp: ENSP00000411432.1:p.Pro63ArgfsTer44
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.188delC
  hgvsp: ENSP00000296446.8:p.Pro63ArgfsTer56
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.188delC
  hgvsp: ENSP00000394041.1:p.Pro63ArgfsTer56
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.188delC
  hgvsp: ENSP00000265563.8:p.Pro63ArgfsTer56
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20005
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6712
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3695
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3283
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6689
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9061
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30047
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2658
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 4.75e1
  variant carriers: 1
hgvs: p.Pro63ArgfsTer56
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: CG
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

3-48884842-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48884842
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48884842
    reference: chr 3
allele count: 1
allele frequency: 1.53666482266888e-5
allele num: 65076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.188C>T
  hgvsp: ENSP00000394041.1:p.Pro63Leu
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.188C>T
  hgvsp: ENSP00000411432.1:p.Pro63Leu
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.188C>T
  hgvsp: ENSP00000296446.8:p.Pro63Leu
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.188C>T
  hgvsp: ENSP00000265563.8:p.Pro63Leu
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18299
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6741
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9505
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3274
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro63Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

3-48884842-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48884842
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48884842
    reference: chr 3
allele count: 1
allele frequency: 1.53666482266888e-5
allele num: 65076
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.188C>G
  hgvsp: ENSP00000296446.8:p.Pro63Arg
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.188C>G
  hgvsp: ENSP00000265563.8:p.Pro63Arg
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.188C>G
  hgvsp: ENSP00000394041.1:p.Pro63Arg
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.188C>G
  hgvsp: ENSP00000411432.1:p.Pro63Arg
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4545
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5982
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18299
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9505
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3274
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30895
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6741
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro63Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

3-48884843-G-GGGGGTGGCCCAGGCTCTGGCGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48884843
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48884865
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 64474
alternate allele: GGGGGTGGCCCAGGCTCTGGCGT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsp: ENSP00000394041.1:p.Pro63ThrfsTer37
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsp: ENSP00000265563.8:p.Pro63ThrfsTer37
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsp: ENSP00000296446.8:p.Pro63ThrfsTer37
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsp: ENSP00000411432.1:p.Pro63ThrfsTer36
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20610
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2586
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9370
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6877
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31229
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3288
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro63ThrfsTer37
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

3-48884844-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48884844
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48884844
    reference: chr 3
allele count: 1
allele frequency: 1.557486839236208e-5
allele num: 64206
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.186C>T
  hgvsp: ENST00000265563.8:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.186C>T
  hgvsp: ENST00000296446.8:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.186C>T
  hgvsp: ENST00000419216.1:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.186C>T
  hgvsp: ENST00000454963.1:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6357
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1063
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2613
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31642
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3338
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro62Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

3-48884851-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48884851
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48884851
    reference: chr 3
allele count: 1
allele frequency: 1.757098678661794e-5
allele num: 56912
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.179G>A
  hgvsp: ENSP00000265563.8:p.Gly60Asp
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.179G>A
  hgvsp: ENSP00000394041.1:p.Gly60Asp
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.179G>A
  hgvsp: ENSP00000296446.8:p.Gly60Asp
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.179G>A
  hgvsp: ENSP00000411432.1:p.Gly60Asp
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17553
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3187
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7370
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8939
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1463
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly60Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

3-48884854-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48884854
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48884854
    reference: chr 3
allele count: 1
allele frequency: 1.835266480692997e-5
allele num: 54488
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.176T>C
  hgvsp: ENSP00000265563.8:p.Leu59Pro
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.176T>C
  hgvsp: ENSP00000411432.1:p.Leu59Pro
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.176T>C
  hgvsp: ENSP00000296446.8:p.Leu59Pro
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.176T>C
  hgvsp: ENSP00000394041.1:p.Leu59Pro
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22661
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9084
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17140
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2411
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 2.75e1
  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
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9890
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6823
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30680
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu59Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

3-48884869-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48884869
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48884869
    reference: chr 3
allele count: 2
allele frequency: 4.958349861166204e-5
allele num: 40336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.161C>T
  hgvsp: ENSP00000411432.1:p.Thr54Ile
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.161C>T
  hgvsp: ENSP00000296446.8:p.Thr54Ile
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.161C>T
  hgvsp: ENSP00000265563.8:p.Thr54Ile
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.161C>T
  hgvsp: ENSP00000394041.1:p.Thr54Ile
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13524
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12928
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26240
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2525
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3893
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2327
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr54Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/3-48884873-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48884873
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48884873
    reference: chr 3
allele count: 70
allele frequency: 1.857848081108339e-3
allele num: 37678
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.157G>T
  hgvsp: ENSP00000411432.1:p.Ala53Ser
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.157G>T
  hgvsp: ENSP00000296446.8:p.Ala53Ser
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.157G>T
  hgvsp: ENSP00000394041.1:p.Ala53Ser
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.157G>T
  hgvsp: ENSP00000265563.8:p.Ala53Ser
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12118
  bin: 1.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14129
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24992
  bin: 7.5e0
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 3623
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14591
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2145
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1606
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4816
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
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genotype quality: GenotypeQuality
  all individuals: 1543
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 25829
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 572
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2521
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 9.75e1
  variant carriers: 58
hgvs: p.Ala53Ser
num of homozygotes: 4
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

3-48884878-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48884878
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48884878
    reference: chr 3
allele count: 1
allele frequency: 2.782105497440463e-5
allele num: 35944
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.152C>T
  hgvsp: ENSP00000296446.8:p.Pro51Leu
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.152C>T
  hgvsp: ENSP00000411432.1:p.Pro51Leu
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.152C>T
  hgvsp: ENSP00000394041.1:p.Pro51Leu
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.152C>T
  hgvsp: ENSP00000265563.8:p.Pro51Leu
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15002
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25366
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11220
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
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  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2969
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro51Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

3-48884901-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48884901
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48884901
    reference: chr 3
allele count: 2
allele frequency: 6.86766018817389e-5
allele num: 29122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.129C>T
  hgvsp: ENST00000296446.8:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.129C>T
  hgvsp: ENST00000454963.1:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.129C>T
  hgvsp: ENST00000419216.1:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.129C>T
  hgvsp: ENST00000265563.8:c.129C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19061
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8977
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4071
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20502
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala43Ala
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

3-48884902-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48884902
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48884902
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 28332
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.128C>A
  hgvsp: ENSP00000265563.8:p.Ala43Asp
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.128C>A
  hgvsp: ENSP00000296446.8:p.Ala43Asp
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.128C>A
  hgvsp: ENSP00000411432.1:p.Ala43Asp
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.128C>A
  hgvsp: ENSP00000394041.1:p.Ala43Asp
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23337
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8808
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19464
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3865
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20963
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20858
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala43Asp
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

3-48884906-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48884906
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48884906
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 27732
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.124G>A
  hgvsp: ENSP00000296446.8:p.Glu42Lys
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.124G>A
  hgvsp: ENSP00000394041.1:p.Glu42Lys
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.124G>A
  hgvsp: ENSP00000265563.8:p.Glu42Lys
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.124G>A
  hgvsp: ENSP00000411432.1:p.Glu42Lys
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20131
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8588
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3766
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3606
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21896
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu42Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

3-48884916-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48884916
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48884916
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 20250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.114C>T
  hgvsp: ENST00000454963.1:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.114C>T
  hgvsp: ENST00000296446.8:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.114C>T
  hgvsp: ENST00000265563.8:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.114C>T
  hgvsp: ENST00000419216.1:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22931
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5979
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr38Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

3-48884918-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48884918
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48884918
    reference: chr 3
allele count: 4
allele frequency: 2.484780718101627e-4
allele num: 16098
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.112A>C
  hgvsp: ENSP00000394041.1:p.Thr38Pro
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.112A>C
  hgvsp: ENSP00000296446.8:p.Thr38Pro
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.112A>C
  hgvsp: ENSP00000265563.8:p.Thr38Pro
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.112A>C
  hgvsp: ENSP00000411432.1:p.Thr38Pro
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 4
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12781
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7888
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4594
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2636
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21707
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr38Pro
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/3-48884933-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48884933
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48884933
    reference: chr 3
allele count: 1
allele frequency: 5.859603890776983e-5
allele num: 17066
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.97G>T
  hgvsp: ENSP00000411432.1:p.Ala33Ser
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.97G>T
  hgvsp: ENSP00000265563.8:p.Ala33Ser
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.97G>T
  hgvsp: ENSP00000394041.1:p.Ala33Ser
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.97G>T
  hgvsp: ENSP00000296446.8:p.Ala33Ser
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4879
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23636
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4330
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3900
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19088
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala33Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

3-48884940-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48884940
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48884940
    reference: chr 3
allele count: 1
allele frequency: 5.839075090505664e-5
allele num: 17126
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.90C>T
  hgvsp: ENST00000419216.1:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.90C>T
  hgvsp: ENST00000265563.8:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.90C>T
  hgvsp: ENST00000296446.8:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.90C>T
  hgvsp: ENST00000454963.1:c.90C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22562
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23407
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3170
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 2363
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3281
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
  all individuals: 22180
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 323
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genotype quality: GenotypeQuality
  all individuals: 1165
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genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val30Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP

3-48884943-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48884943
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48884943
    reference: chr 3
allele count: 2
allele frequency: 1.166452816983553e-4
allele num: 17146
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.87C>T
  hgvsp: ENST00000296446.8:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.87C>T
  hgvsp: ENST00000454963.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.87C>T
  hgvsp: ENST00000419216.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.87C>T
  hgvsp: ENST00000265563.8:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21529
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28514
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24684
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 351
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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: 2200
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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: 1231
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genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu29Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD

3-48884950-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48884950
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48884950
    reference: chr 3
allele count: 1
allele frequency: 5.839075090505664e-5
allele num: 17126
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.80C>A
  hgvsp: ENSP00000394041.1:p.Pro27His
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.80C>A
  hgvsp: ENSP00000411432.1:p.Pro27His
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.80C>A
  hgvsp: ENSP00000296446.8:p.Pro27His
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.80C>A
  hgvsp: ENSP00000265563.8:p.Pro27His
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19501
  bin: 2.5e0
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18721
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3839
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro27His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

3-48884959-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48884959
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48884959
    reference: chr 3
allele count: 1
allele frequency: 5.422405379026136e-5
allele num: 18442
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.71A>G
  hgvsp: ENSP00000296446.8:p.Gln24Arg
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.71A>G
  hgvsp: ENSP00000394041.1:p.Gln24Arg
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.71A>G
  hgvsp: ENSP00000411432.1:p.Gln24Arg
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.71A>G
  hgvsp: ENSP00000265563.8:p.Gln24Arg
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5623
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34096
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14862
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1668
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1924
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln24Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum

3-48884960-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48884960
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48884960
    reference: chr 3
allele count: 2
allele frequency: 1.07828337287039e-4
allele num: 18548
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.70C>G
  hgvsp: ENSP00000296446.8:p.Gln24Glu
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.70C>G
  hgvsp: ENSP00000265563.8:p.Gln24Glu
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.70C>G
  hgvsp: ENSP00000411432.1:p.Gln24Glu
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.70C>G
  hgvsp: ENSP00000394041.1:p.Gln24Glu
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14746
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5632
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34658
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 14399
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genotype quality: GenotypeQuality
  all individuals: 721
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genotype quality: GenotypeQuality
  all individuals: 1607
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genotype quality: GenotypeQuality
  all individuals: 40
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genotype quality: GenotypeQuality
  all individuals: 2610
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genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
hgvs: p.Gln24Glu
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-48884965-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48884965
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48884965
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 20128
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.65T>G
  hgvsp: ENSP00000296446.8:p.Leu22Arg
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.65T>G
  hgvsp: ENSP00000411432.1:p.Leu22Arg
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.65T>G
  hgvsp: ENSP00000394041.1:p.Leu22Arg
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.65T>G
  hgvsp: ENSP00000265563.8:p.Leu22Arg
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12744
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36547
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5626
  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 36572
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 525
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Leu22Arg
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

3-48884967-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48884967
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48884967
    reference: chr 3
allele count: 2
allele frequency: 9.665571235260003e-5
allele num: 20692
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.63G>A
  hgvsp: ENST00000265563.8:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.63G>A
  hgvsp: ENST00000296446.8:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.63G>A
  hgvsp: ENST00000419216.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.63G>A
  hgvsp: ENST00000454963.1:c.63G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3460
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val21Val
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff

3-48884985-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48884985
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48884985
    reference: chr 3
allele count: 1
allele frequency: 3.770170411702609e-5
allele num: 26524
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.45G>C
  hgvsp: ENSP00000296446.8:p.Gln15His
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.45G>C
  hgvsp: ENSP00000411432.1:p.Gln15His
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.45G>C
  hgvsp: ENSP00000265563.8:p.Gln15His
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.45G>C
  hgvsp: ENSP00000394041.1:p.Gln15His
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36853
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9484
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5750
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9398
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37622
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5681
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln15His
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

3-48884998-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48884998
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48884998
    reference: chr 3
allele count: 1
allele frequency: 3.39420270178535e-5
allele num: 29462
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.32C>A
  hgvsp: ENSP00000265563.8:p.Thr11Lys
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.32C>A
  hgvsp: ENSP00000296446.8:p.Thr11Lys
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.32C>A
  hgvsp: ENSP00000411432.1:p.Thr11Lys
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.32C>A
  hgvsp: ENSP00000394041.1:p.Thr11Lys
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6044
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9496
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 36982
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 482
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 281
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genotype quality: GenotypeQuality
  all individuals: 1354
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genotype quality: GenotypeQuality
  all individuals: 753
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genotype quality: GenotypeQuality
  all individuals: 9574
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genotype quality: GenotypeQuality
  all individuals: 129
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genotype quality: GenotypeQuality
  all individuals: 337
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr11Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

3-48885012-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48885012
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48885012
    reference: chr 3
allele count: 4
allele frequency: 1.362862010221465e-4
allele num: 29350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.18C>T
  hgvsp: ENST00000296446.8:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.18C>T
  hgvsp: ENST00000265563.8:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.18C>T
  hgvsp: ENST00000454963.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000224424
  ensembl transcript: ENST00000435419
  gene symbol: PRKAR2A-AS1
  hgvsc: ENST00000435419.1:n.8G>A
  variant of: http://identifiers.org/hgnc/40471
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.18C>T
  hgvsp: ENST00000419216.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5546
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7305
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33111
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11385
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11750
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 604
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 36494
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 940
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 401
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genotype quality: GenotypeQuality
  all individuals: 5921
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile6Ile
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP

3-48885012-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48885012
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48885012
    reference: chr 3
allele count: 2
allele frequency: 6.814310051107325e-5
allele num: 29350
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.18C>A
  hgvsp: ENST00000265563.8:c.18C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.18C>A
  hgvsp: ENST00000419216.1:c.18C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.18C>A
  hgvsp: ENST00000454963.1:c.18C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.18C>A
  hgvsp: ENST00000296446.8:c.18C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000224424
  ensembl transcript: ENST00000435419
  gene symbol: PRKAR2A-AS1
  hgvsc: ENST00000435419.1:n.8G>T
  variant of: http://identifiers.org/hgnc/40471
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33111
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5546
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7305
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11385
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11750
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36494
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile6Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/3-48885015-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48885015
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48885015
    reference: chr 3
allele count: 1
allele frequency: 3.479713271626418e-5
allele num: 28738
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000224424
  ensembl transcript: ENST00000435419
  gene symbol: PRKAR2A-AS1
  hgvsc: ENST00000435419.1:n.11C>A
  variant of: http://identifiers.org/hgnc/40471
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.15G>T
  hgvsp: ENSP00000265563.8:p.Gln5His
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.15G>T
  hgvsp: ENSP00000394041.1:p.Gln5His
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.15G>T
  hgvsp: ENSP00000411432.1:p.Gln5His
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.15G>T
  hgvsp: ENSP00000296446.8:p.Gln5His
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32067
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12506
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7957
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 3
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genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 12998
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 840
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 35709
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln5His
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS

3-48885015-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48885015
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48885015
    reference: chr 3
allele count: 11
allele frequency: 3.82768459878906e-4
allele num: 28738
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.15G>A
  hgvsp: ENST00000419216.1:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.15G>A
  hgvsp: ENST00000296446.8:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.15G>A
  hgvsp: ENST00000265563.8:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000224424
  ensembl transcript: ENST00000435419
  gene symbol: PRKAR2A-AS1
  hgvsc: ENST00000435419.1:n.11C>T
  variant of: http://identifiers.org/hgnc/40471
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.15G>A
  hgvsp: ENST00000454963.1:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7957
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12506
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32067
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4540
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35709
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
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genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4783
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genotype quality: GenotypeQuality
  all individuals: 676
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 12998
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genotype quality: GenotypeQuality
  all individuals: 346
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genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1277
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genotype quality: GenotypeQuality
  all individuals: 31
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln5Gln
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: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

3-48885031-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48885031
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48885031
    reference: chr 3
allele count: 2
allele frequency: 9.341429238673517e-5
allele num: 21410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000224424
  ensembl transcript: ENST00000435419
  gene symbol: PRKAR2A-AS1
  hgvsc: ENST00000435419.1:n.27C>T
  variant of: http://identifiers.org/hgnc/40471
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.-2G>A
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.-2G>A
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.-2G>A
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.-2G>A
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24618
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9101
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20552
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 977
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genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 360
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genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 21777
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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: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.25e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

3-48885043-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48885043
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48885043
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 18350
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.-14C>T
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.-14C>T
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000224424
  ensembl transcript: ENST00000435419
  gene symbol: PRKAR2A-AS1
  hgvsc: ENST00000435419.1:n.39G>A
  variant of: http://identifiers.org/hgnc/40471
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.-14C>T
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.-14C>T
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21716
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24019
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26184
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1726
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21547
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

3-48885050-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48885050
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48885050
    reference: chr 3
allele count: 1
allele frequency: 6.403688524590164e-5
allele num: 15616
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.-21A>C
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.-21A>C
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.-21A>C
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.-21A>C
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000224424
  ensembl transcript: ENST00000435419
  gene symbol: PRKAR2A-AS1
  hgvsc: ENST00000435419.1:n.46T>G
  variant of: http://identifiers.org/hgnc/40471
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6964
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25630
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19707
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28902
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17349
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

3-48885064-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48885064
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48885064
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 6086
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.-35G>A
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.-35G>A
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000224424
  ensembl transcript: ENST00000435419
  gene symbol: PRKAR2A-AS1
  hgvsc: ENST00000435419.1:n.60C>T
  variant of: http://identifiers.org/hgnc/40471
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.-35G>A
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.-35G>A
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27200
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2959
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5935
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 25232
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3125
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4438
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 471
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP

3-48885072-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48885072
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48885072
    reference: chr 3
allele count: 1
allele frequency: 1.443001443001443e-4
allele num: 6930
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.-43C>T
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.-43C>T
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000224424
  ensembl transcript: ENST00000435419
  gene symbol: PRKAR2A-AS1
  hgvsc: ENST00000435419.1:n.68G>A
  variant of: http://identifiers.org/hgnc/40471
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.-43C>T
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.-43C>T
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17165
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30729
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 171
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4411
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

3-48885072-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48885072
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48885072
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 6930
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.-43C>G
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000224424
  ensembl transcript: ENST00000435419
  gene symbol: PRKAR2A-AS1
  hgvsc: ENST00000435419.1:n.68G>C
  variant of: http://identifiers.org/hgnc/40471
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.-43C>G
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.-43C>G
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.-43C>G
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: 5' UTR
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17165
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30729
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9709
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30662
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2763
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

3-48885073-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48885073
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48885073
    reference: chr 3
allele count: 1
allele frequency: 1.565435190983093e-4
allele num: 6388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.-44G>A
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000224424
  ensembl transcript: ENST00000435419
  gene symbol: PRKAR2A-AS1
  hgvsc: ENST00000435419.1:n.69C>T
  variant of: http://identifiers.org/hgnc/40471
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.-44G>A
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.-44G>A
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.-44G>A
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30841
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4695
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3457
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
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genotype quality: GenotypeQuality
  all individuals: 3239
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genotype quality: GenotypeQuality
  all individuals: 42
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 8455
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genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

3-48885074-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48885074
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48885074
    reference: chr 3
allele count: 1
allele frequency: 1.543686322939179e-4
allele num: 6478
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.-45G>A
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000224424
  ensembl transcript: ENST00000435419
  gene symbol: PRKAR2A-AS1
  hgvsc: ENST00000435419.1:n.70C>T
  variant of: http://identifiers.org/hgnc/40471
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.-45G>A
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.-45G>A
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.-45G>A
  variant of: http://identifiers.org/hgnc/9391
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30885
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17577
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30354
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genotype quality: GenotypeQuality
  all individuals: 8875
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3032
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 4652
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genotype quality: GenotypeQuality
  all individuals: 694
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genotype quality: GenotypeQuality
  all individuals: 173
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genotype quality: GenotypeQuality
  all individuals: 109
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 17
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genotype quality: GenotypeQuality
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

3-48885077-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48885077
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48885077
    reference: chr 3
allele count: 1
allele frequency: 1.613423685059697e-4
allele num: 6198
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000411432
  ensembl transcript: ENST00000419216
  gene symbol: PRKAR2A
  hgvsc: ENST00000419216.1:c.-48A>G
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000394041
  ensembl transcript: ENST00000454963
  gene symbol: PRKAR2A
  hgvsc: ENST00000454963.1:c.-48A>G
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000296446
  ensembl transcript: ENST00000296446
  gene symbol: PRKAR2A
  hgvsc: ENST00000296446.8:c.-48A>G
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000114302
  ensembl protein: ENSP00000265563
  ensembl transcript: ENST00000265563
  gene symbol: PRKAR2A
  hgvsc: ENST00000265563.8:c.-48A>G
  variant of: http://identifiers.org/hgnc/9391
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000224424
  ensembl transcript: ENST00000435419
  gene symbol: PRKAR2A-AS1
  hgvsc: ENST00000435419.1:n.73T>C
  variant of: http://identifiers.org/hgnc/40471
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30935
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17918
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 495
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7929
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genotype quality: GenotypeQuality
  all individuals: 3989
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

3-48895098-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48895098
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48895098
    reference: chr 3
allele count: 6
allele frequency: 5.279180671159836e-5
allele num: 113654
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178537
  ensembl transcript: ENST00000479050
  gene symbol: SLC25A20
  hgvsc: ENST00000479050.1:n.270G>A
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388986
  ensembl transcript: ENST00000430379
  gene symbol: SLC25A20
  hgvsc: ENST00000430379.1:c.*45G>A
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000438731
  ensembl transcript: ENST00000544097
  gene symbol: SLC25A20
  hgvsc: ENST00000544097.1:c.*45G>A
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388563
  ensembl transcript: ENST00000440964
  gene symbol: SLC25A20
  hgvsc: ENST00000440964.1:c.*781G>A
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000326305
  ensembl transcript: ENST00000319017
  gene symbol: SLC25A20
  hgvsc: ENST00000319017.4:c.*45G>A
  variant of: http://identifiers.org/hgnc/1421
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11296
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9339
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8776
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3638
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4332
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6647
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4121
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3741
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

3-48895099-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48895099
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48895099
    reference: chr 3
allele count: 2
allele frequency: 1.757839966249473e-5
allele num: 113776
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000326305
  ensembl transcript: ENST00000319017
  gene symbol: SLC25A20
  hgvsc: ENST00000319017.4:c.*44C>T
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178537
  ensembl transcript: ENST00000479050
  gene symbol: SLC25A20
  hgvsc: ENST00000479050.1:n.269C>T
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388986
  ensembl transcript: ENST00000430379
  gene symbol: SLC25A20
  hgvsc: ENST00000430379.1:c.*44C>T
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000438731
  ensembl transcript: ENST00000544097
  gene symbol: SLC25A20
  hgvsc: ENST00000544097.1:c.*44C>T
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388563
  ensembl transcript: ENST00000440964
  gene symbol: SLC25A20
  hgvsc: ENST00000440964.1:c.*780C>T
  variant of: http://identifiers.org/hgnc/1421
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7625
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16161
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3838
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24284
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3596
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6645
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4204
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3271
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4165
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

3-48895099-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48895099
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48895099
    reference: chr 3
allele count: 3
allele frequency: 2.636759949374209e-5
allele num: 113776
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388563
  ensembl transcript: ENST00000440964
  gene symbol: SLC25A20
  hgvsc: ENST00000440964.1:c.*780C>A
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000438731
  ensembl transcript: ENST00000544097
  gene symbol: SLC25A20
  hgvsc: ENST00000544097.1:c.*44C>A
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000326305
  ensembl transcript: ENST00000319017
  gene symbol: SLC25A20
  hgvsc: ENST00000319017.4:c.*44C>A
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388986
  ensembl transcript: ENST00000430379
  gene symbol: SLC25A20
  hgvsc: ENST00000430379.1:c.*44C>A
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178537
  ensembl transcript: ENST00000479050
  gene symbol: SLC25A20
  hgvsc: ENST00000479050.1:n.269C>A
  variant of: http://identifiers.org/hgnc/1421
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7625
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16161
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3271
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3596
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24284
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6645
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2292
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1926
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD

3-48895112-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48895112
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48895112
    reference: chr 3
allele count: 1
allele frequency: 8.705038476270064e-6
allele num: 114876
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388563
  ensembl transcript: ENST00000440964
  gene symbol: SLC25A20
  hgvsc: ENST00000440964.1:c.*767T>C
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178537
  ensembl transcript: ENST00000479050
  gene symbol: SLC25A20
  hgvsc: ENST00000479050.1:n.256T>C
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000326305
  ensembl transcript: ENST00000319017
  gene symbol: SLC25A20
  hgvsc: ENST00000319017.4:c.*31T>C
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000438731
  ensembl transcript: ENST00000544097
  gene symbol: SLC25A20
  hgvsc: ENST00000544097.1:c.*31T>C
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388986
  ensembl transcript: ENST00000430379
  gene symbol: SLC25A20
  hgvsc: ENST00000430379.1:c.*31T>C
  variant of: http://identifiers.org/hgnc/1421
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33775
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 360
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4403
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3695
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2482
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6637
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP

3-48895122-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48895122
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48895122
    reference: chr 3
allele count: 3
allele frequency: 2.594661915552404e-5
allele num: 115622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388563
  ensembl transcript: ENST00000440964
  gene symbol: SLC25A20
  hgvsc: ENST00000440964.1:c.*757C>T
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178537
  ensembl transcript: ENST00000479050
  gene symbol: SLC25A20
  hgvsc: ENST00000479050.1:n.246C>T
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000438731
  ensembl transcript: ENST00000544097
  gene symbol: SLC25A20
  hgvsc: ENST00000544097.1:c.*21C>T
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000326305
  ensembl transcript: ENST00000319017
  gene symbol: SLC25A20
  hgvsc: ENST00000319017.4:c.*21C>T
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388986
  ensembl transcript: ENST00000430379
  gene symbol: SLC25A20
  hgvsc: ENST00000430379.1:c.*21C>T
  variant of: http://identifiers.org/hgnc/1421
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13488
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36712
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3295
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4541
  bin: 6.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

3-48895128-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48895128
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48895128
    reference: chr 3
allele count: 2
allele frequency: 1.722801274872944e-5
allele num: 116090
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000326305
  ensembl transcript: ENST00000319017
  gene symbol: SLC25A20
  hgvsc: ENST00000319017.4:c.*15C>T
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000438731
  ensembl transcript: ENST00000544097
  gene symbol: SLC25A20
  hgvsc: ENST00000544097.1:c.*15C>T
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178537
  ensembl transcript: ENST00000479050
  gene symbol: SLC25A20
  hgvsc: ENST00000479050.1:n.240C>T
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388563
  ensembl transcript: ENST00000440964
  gene symbol: SLC25A20
  hgvsc: ENST00000440964.1:c.*751C>T
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388986
  ensembl transcript: ENST00000430379
  gene symbol: SLC25A20
  hgvsc: ENST00000430379.1:c.*15C>T
  variant of: http://identifiers.org/hgnc/1421
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4519
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13880
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3087
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4594
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6638
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37826
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

3-48895133-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48895133
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48895133
    reference: chr 3
allele count: 14
allele frequency: 1.20204691417385e-4
allele num: 116468
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000438731
  ensembl transcript: ENST00000544097
  gene symbol: SLC25A20
  hgvsc: ENST00000544097.1:c.*10C>G
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388563
  ensembl transcript: ENST00000440964
  gene symbol: SLC25A20
  hgvsc: ENST00000440964.1:c.*746C>G
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388986
  ensembl transcript: ENST00000430379
  gene symbol: SLC25A20
  hgvsc: ENST00000430379.1:c.*10C>G
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178537
  ensembl transcript: ENST00000479050
  gene symbol: SLC25A20
  hgvsc: ENST00000479050.1:n.235C>G
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000326305
  ensembl transcript: ENST00000319017
  gene symbol: SLC25A20
  hgvsc: ENST00000319017.4:c.*10C>G
  variant of: http://identifiers.org/hgnc/1421
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14269
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4562
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2918
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38365
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/3-48895147-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48895147
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48895147
    reference: chr 3
allele count: 1
allele frequency: 8.516726851536417e-6
allele num: 117416
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388986
  ensembl transcript: ENST00000430379
  gene symbol: SLC25A20
  hgvsc: ENST00000430379.1:c.683T>G
  hgvsp: ENSP00000388986.1:p.Leu228Trp
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388563
  ensembl transcript: ENST00000440964
  gene symbol: SLC25A20
  hgvsc: ENST00000440964.1:c.*732T>G
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178537
  ensembl transcript: ENST00000479050
  gene symbol: SLC25A20
  hgvsc: ENST00000479050.1:n.221T>G
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000438731
  ensembl transcript: ENST00000544097
  gene symbol: SLC25A20
  hgvsc: ENST00000544097.1:c.752T>G
  hgvsp: ENSP00000438731.1:p.Leu251Trp
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000326305
  ensembl transcript: ENST00000319017
  gene symbol: SLC25A20
  hgvsc: ENST00000319017.4:c.902T>G
  hgvsp: ENSP00000326305.4:p.Leu301Trp
  variant of: http://identifiers.org/hgnc/1421
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15030
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40018
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4780
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6633
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu301Trp
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD

3-48895148-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48895148
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48895148
    reference: chr 3
allele count: 1
allele frequency: 8.514261387824607e-6
allele num: 117450
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178537
  ensembl transcript: ENST00000479050
  gene symbol: SLC25A20
  hgvsc: ENST00000479050.1:n.220T>C
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000326305
  ensembl transcript: ENST00000319017
  gene symbol: SLC25A20
  hgvsc: ENST00000319017.4:c.901T>C
  hgvsp: ENST00000319017.4:c.901T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000438731
  ensembl transcript: ENST00000544097
  gene symbol: SLC25A20
  hgvsc: ENST00000544097.1:c.751T>C
  hgvsp: ENST00000544097.1:c.751T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388986
  ensembl transcript: ENST00000430379
  gene symbol: SLC25A20
  hgvsc: ENST00000430379.1:c.682T>C
  hgvsp: ENST00000430379.1:c.682T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388563
  ensembl transcript: ENST00000440964
  gene symbol: SLC25A20
  hgvsc: ENST00000440964.1:c.*731T>C
  variant of: http://identifiers.org/hgnc/1421
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu301Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS

3-48895155-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48895155
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48895155
    reference: chr 3
allele count: 3
allele frequency: 2.550543265715597e-5
allele num: 117622
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388986
  ensembl transcript: ENST00000430379
  gene symbol: SLC25A20
  hgvsc: ENST00000430379.1:c.675C>A
  hgvsp: ENST00000430379.1:c.675C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000438731
  ensembl transcript: ENST00000544097
  gene symbol: SLC25A20
  hgvsc: ENST00000544097.1:c.744C>A
  hgvsp: ENST00000544097.1:c.744C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388563
  ensembl transcript: ENST00000440964
  gene symbol: SLC25A20
  hgvsc: ENST00000440964.1:c.*724C>A
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178537
  ensembl transcript: ENST00000479050
  gene symbol: SLC25A20
  hgvsc: ENST00000479050.1:n.213C>A
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000326305
  ensembl transcript: ENST00000319017
  gene symbol: SLC25A20
  hgvsc: ENST00000319017.4:c.894C>A
  hgvsp: ENST00000319017.4:c.894C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1421
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40283
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2479
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr298Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

3-48895157-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48895157
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48895157
    reference: chr 3
allele count: 3
allele frequency: 2.550586634926033e-5
allele num: 117620
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000326305
  ensembl transcript: ENST00000319017
  gene symbol: SLC25A20
  hgvsc: ENST00000319017.4:c.892A>C
  hgvsp: ENSP00000326305.4:p.Thr298Pro
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388563
  ensembl transcript: ENST00000440964
  gene symbol: SLC25A20
  hgvsc: ENST00000440964.1:c.*722A>C
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000438731
  ensembl transcript: ENST00000544097
  gene symbol: SLC25A20
  hgvsc: ENST00000544097.1:c.742A>C
  hgvsp: ENSP00000438731.1:p.Thr248Pro
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388986
  ensembl transcript: ENST00000430379
  gene symbol: SLC25A20
  hgvsc: ENST00000430379.1:c.673A>C
  hgvsp: ENSP00000388986.1:p.Thr225Pro
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178537
  ensembl transcript: ENST00000479050
  gene symbol: SLC25A20
  hgvsc: ENST00000479050.1:n.211A>C
  variant of: http://identifiers.org/hgnc/1421
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15437
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2479
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40218
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr298Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

3-48895160-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48895160
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48895160
    reference: chr 3
allele count: 1
allele frequency: 8.50210001870462e-6
allele num: 117618
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000438731
  ensembl transcript: ENST00000544097
  gene symbol: SLC25A20
  hgvsc: ENST00000544097.1:c.739G>A
  hgvsp: ENSP00000438731.1:p.Ala247Thr
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388563
  ensembl transcript: ENST00000440964
  gene symbol: SLC25A20
  hgvsc: ENST00000440964.1:c.*719G>A
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178537
  ensembl transcript: ENST00000479050
  gene symbol: SLC25A20
  hgvsc: ENST00000479050.1:n.208G>A
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388986
  ensembl transcript: ENST00000430379
  gene symbol: SLC25A20
  hgvsc: ENST00000430379.1:c.670G>A
  hgvsp: ENSP00000388986.1:p.Ala224Thr
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000326305
  ensembl transcript: ENST00000319017
  gene symbol: SLC25A20
  hgvsc: ENST00000319017.4:c.889G>A
  hgvsp: ENSP00000326305.4:p.Ala297Thr
  variant of: http://identifiers.org/hgnc/1421
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6629
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40201
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4784
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala297Thr
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

3-48895161-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48895161
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48895161
    reference: chr 3
allele count: 1
allele frequency: 8.499209573509664e-6
allele num: 117658
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000326305
  ensembl transcript: ENST00000319017
  gene symbol: SLC25A20
  hgvsc: ENST00000319017.4:c.888G>C
  hgvsp: ENSP00000326305.4:p.Trp296Cys
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388986
  ensembl transcript: ENST00000430379
  gene symbol: SLC25A20
  hgvsc: ENST00000430379.1:c.669G>C
  hgvsp: ENSP00000388986.1:p.Trp223Cys
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388563
  ensembl transcript: ENST00000440964
  gene symbol: SLC25A20
  hgvsc: ENST00000440964.1:c.*718G>C
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000438731
  ensembl transcript: ENST00000544097
  gene symbol: SLC25A20
  hgvsc: ENST00000544097.1:c.738G>C
  hgvsp: ENSP00000438731.1:p.Trp246Cys
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178537
  ensembl transcript: ENST00000479050
  gene symbol: SLC25A20
  hgvsc: ENST00000479050.1:n.207G>C
  variant of: http://identifiers.org/hgnc/1421
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15727
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4807
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6629
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40327
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Trp296Cys
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

3-48895168-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48895168
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48895168
    reference: chr 3
allele count: 1
allele frequency: 8.503256747334228e-6
allele num: 117602
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000438731
  ensembl transcript: ENST00000544097
  gene symbol: SLC25A20
  hgvsc: ENST00000544097.1:c.731T>C
  hgvsp: ENSP00000438731.1:p.Leu244Pro
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000326305
  ensembl transcript: ENST00000319017
  gene symbol: SLC25A20
  hgvsc: ENST00000319017.4:c.881T>C
  hgvsp: ENSP00000326305.4:p.Leu294Pro
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388563
  ensembl transcript: ENST00000440964
  gene symbol: SLC25A20
  hgvsc: ENST00000440964.1:c.*711T>C
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178537
  ensembl transcript: ENST00000479050
  gene symbol: SLC25A20
  hgvsc: ENST00000479050.1:n.200T>C
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388986
  ensembl transcript: ENST00000430379
  gene symbol: SLC25A20
  hgvsc: ENST00000430379.1:c.662T>C
  hgvsp: ENSP00000388986.1:p.Leu221Pro
  variant of: http://identifiers.org/hgnc/1421
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4820
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 815
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu294Pro
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP

3-48895177-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48895177
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48895177
    reference: chr 3
allele count: 3
allele frequency: 2.560469760852124e-5
allele num: 117166
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000438731
  ensembl transcript: ENST00000544097
  gene symbol: SLC25A20
  hgvsc: ENST00000544097.1:c.722T>C
  hgvsp: ENSP00000438731.1:p.Met241Thr
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388563
  ensembl transcript: ENST00000440964
  gene symbol: SLC25A20
  hgvsc: ENST00000440964.1:c.*702T>C
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000326305
  ensembl transcript: ENST00000319017
  gene symbol: SLC25A20
  hgvsc: ENST00000319017.4:c.872T>C
  hgvsp: ENSP00000326305.4:p.Met291Thr
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388986
  ensembl transcript: ENST00000430379
  gene symbol: SLC25A20
  hgvsc: ENST00000430379.1:c.653T>C
  hgvsp: ENSP00000388986.1:p.Met218Thr
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178537
  ensembl transcript: ENST00000479050
  gene symbol: SLC25A20
  hgvsc: ENST00000479050.1:n.191T>C
  variant of: http://identifiers.org/hgnc/1421
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27226
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4791
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
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genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1242
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genotype quality: GenotypeQuality
  all individuals: 10
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39871
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met291Thr
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/3-48895190-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48895190
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48895190
    reference: chr 3
allele count: 1
allele frequency: 8.621135575978068e-6
allele num: 115994
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178537
  ensembl transcript: ENST00000479050
  gene symbol: SLC25A20
  hgvsc: ENST00000479050.1:n.178T>G
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000438731
  ensembl transcript: ENST00000544097
  gene symbol: SLC25A20
  hgvsc: ENST00000544097.1:c.709T>G
  hgvsp: ENSP00000438731.1:p.Phe237Val
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388563
  ensembl transcript: ENST00000440964
  gene symbol: SLC25A20
  hgvsc: ENST00000440964.1:c.*689T>G
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388986
  ensembl transcript: ENST00000430379
  gene symbol: SLC25A20
  hgvsc: ENST00000430379.1:c.640T>G
  hgvsp: ENSP00000388986.1:p.Phe214Val
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000326305
  ensembl transcript: ENST00000319017
  gene symbol: SLC25A20
  hgvsc: ENST00000319017.4:c.859T>G
  hgvsp: ENSP00000326305.4:p.Phe287Val
  variant of: http://identifiers.org/hgnc/1421
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4672
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6629
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38490
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Phe287Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

3-48895193-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48895193
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48895193
    reference: chr 3
allele count: 2
allele frequency: 1.728877439878287e-5
allele num: 115682
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000326305
  ensembl transcript: ENST00000319017
  gene symbol: SLC25A20
  hgvsc: ENST00000319017.4:c.856G>C
  hgvsp: ENSP00000326305.4:p.Gly286Arg
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388986
  ensembl transcript: ENST00000430379
  gene symbol: SLC25A20
  hgvsc: ENST00000430379.1:c.637G>C
  hgvsp: ENSP00000388986.1:p.Gly213Arg
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388563
  ensembl transcript: ENST00000440964
  gene symbol: SLC25A20
  hgvsc: ENST00000440964.1:c.*686G>C
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000438731
  ensembl transcript: ENST00000544097
  gene symbol: SLC25A20
  hgvsc: ENST00000544097.1:c.706G>C
  hgvsp: ENSP00000438731.1:p.Gly236Arg
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178537
  ensembl transcript: ENST00000479050
  gene symbol: SLC25A20
  hgvsc: ENST00000479050.1:n.175G>C
  variant of: http://identifiers.org/hgnc/1421
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25465
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4646
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6628
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38271
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly286Arg
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

3-48895204-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48895204
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48895204
    reference: chr 3
allele count: 1
allele frequency: 8.800183043807312e-6
allele num: 113634
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000438731
  ensembl transcript: ENST00000544097
  gene symbol: SLC25A20
  hgvsc: ENST00000544097.1:c.695C>T
  hgvsp: ENSP00000438731.1:p.Ala232Val
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000326305
  ensembl transcript: ENST00000319017
  gene symbol: SLC25A20
  hgvsc: ENST00000319017.4:c.845C>T
  hgvsp: ENSP00000326305.4:p.Ala282Val
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178537
  ensembl transcript: ENST00000479050
  gene symbol: SLC25A20
  hgvsc: ENST00000479050.1:n.164C>T
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388563
  ensembl transcript: ENST00000440964
  gene symbol: SLC25A20
  hgvsc: ENST00000440964.1:c.*675C>T
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388986
  ensembl transcript: ENST00000430379
  gene symbol: SLC25A20
  hgvsc: ENST00000430379.1:c.626C>T
  hgvsp: ENSP00000388986.1:p.Ala209Val
  variant of: http://identifiers.org/hgnc/1421
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4749
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15599
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4625
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35159
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7081
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala282Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

3-48895206-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48895206
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48895206
    reference: chr 3
allele count: 1
allele frequency: 8.821453775582216e-6
allele num: 113360
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000326305
  ensembl transcript: ENST00000319017
  gene symbol: SLC25A20
  hgvsc: ENST00000319017.4:c.844-1G>A
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000438731
  ensembl transcript: ENST00000544097
  gene symbol: SLC25A20
  hgvsc: ENST00000544097.1:c.694-1G>A
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388986
  ensembl transcript: ENST00000430379
  gene symbol: SLC25A20
  hgvsc: ENST00000430379.1:c.625-1G>A
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388563
  ensembl transcript: ENST00000440964
  gene symbol: SLC25A20
  hgvsc: ENST00000440964.1:c.*674-1G>A
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000178537
  ensembl transcript: ENST00000479050
  gene symbol: SLC25A20
  hgvsc: ENST00000479050.1:n.163-1G>A
  variant of: http://identifiers.org/hgnc/1421
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4325
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6625
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7422
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
hgvs: c.844-1G>A
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

3-48895211-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48895211
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48895211
    reference: chr 3
allele count: 3
allele frequency: 2.677089468330031e-5
allele num: 112062
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000326305
  ensembl transcript: ENST00000319017
  gene symbol: SLC25A20
  hgvsc: ENST00000319017.4:c.844-6T>C
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388563
  ensembl transcript: ENST00000440964
  gene symbol: SLC25A20
  hgvsc: ENST00000440964.1:c.*674-6T>C
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388986
  ensembl transcript: ENST00000430379
  gene symbol: SLC25A20
  hgvsc: ENST00000430379.1:c.625-6T>C
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000438731
  ensembl transcript: ENST00000544097
  gene symbol: SLC25A20
  hgvsc: ENST00000544097.1:c.694-6T>C
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl transcript: ENST00000479050
  gene symbol: SLC25A20
  hgvsc: ENST00000479050.1:n.163-6T>C
  variant of: http://identifiers.org/hgnc/1421
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15102
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6615
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9038
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32952
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4228
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
hgvs: c.844-6T>C
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

3-48895214-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48895214
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48895214
    reference: chr 3
allele count: 1
allele frequency: 9.027878087534306e-6
allele num: 110768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl transcript: ENST00000479050
  gene symbol: SLC25A20
  hgvsc: ENST00000479050.1:n.163-9C>T
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000438731
  ensembl transcript: ENST00000544097
  gene symbol: SLC25A20
  hgvsc: ENST00000544097.1:c.694-9C>T
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388986
  ensembl transcript: ENST00000430379
  gene symbol: SLC25A20
  hgvsc: ENST00000430379.1:c.625-9C>T
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388563
  ensembl transcript: ENST00000440964
  gene symbol: SLC25A20
  hgvsc: ENST00000440964.1:c.*674-9C>T
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000326305
  ensembl transcript: ENST00000319017
  gene symbol: SLC25A20
  hgvsc: ENST00000319017.4:c.844-9C>T
  variant of: http://identifiers.org/hgnc/1421
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14561
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5030
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 738
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3873
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6625
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10624
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP

3-48895216-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48895216
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48895216
    reference: chr 3
allele count: 2
allele frequency: 1.810184095722535e-5
allele num: 110486
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl transcript: ENST00000479050
  gene symbol: SLC25A20
  hgvsc: ENST00000479050.1:n.163-11T>C
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000326305
  ensembl transcript: ENST00000319017
  gene symbol: SLC25A20
  hgvsc: ENST00000319017.4:c.844-11T>C
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000438731
  ensembl transcript: ENST00000544097
  gene symbol: SLC25A20
  hgvsc: ENST00000544097.1:c.694-11T>C
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388986
  ensembl transcript: ENST00000430379
  gene symbol: SLC25A20
  hgvsc: ENST00000430379.1:c.625-11T>C
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388563
  ensembl transcript: ENST00000440964
  gene symbol: SLC25A20
  hgvsc: ENST00000440964.1:c.*674-11T>C
  variant of: http://identifiers.org/hgnc/1421
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8781
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3853
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: African
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-48895223-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48895223
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48895223
    reference: chr 3
allele count: 1
allele frequency: 9.19793966151582e-6
allele num: 108720
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl transcript: ENST00000479050
  gene symbol: SLC25A20
  hgvsc: ENST00000479050.1:n.163-18C>T
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388986
  ensembl transcript: ENST00000430379
  gene symbol: SLC25A20
  hgvsc: ENST00000430379.1:c.625-18C>T
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000326305
  ensembl transcript: ENST00000319017
  gene symbol: SLC25A20
  hgvsc: ENST00000319017.4:c.844-18C>T
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000438731
  ensembl transcript: ENST00000544097
  gene symbol: SLC25A20
  hgvsc: ENST00000544097.1:c.694-18C>T
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388563
  ensembl transcript: ENST00000440964
  gene symbol: SLC25A20
  hgvsc: ENST00000440964.1:c.*674-18C>T
  variant of: http://identifiers.org/hgnc/1421
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14583
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11594
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13410
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2397
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26009
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13296
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2367
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

3-48895227-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48895227
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48895228
    reference: chr 3
allele count: 1
allele frequency: 9.291953168556031e-6
allele num: 107620
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388986
  ensembl transcript: ENST00000430379
  gene symbol: SLC25A20
  hgvsc: ENST00000430379.1:c.625-23dupT
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl transcript: ENST00000479050
  gene symbol: SLC25A20
  hgvsc: ENST00000479050.1:n.163-23dupT
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000326305
  ensembl transcript: ENST00000319017
  gene symbol: SLC25A20
  hgvsc: ENST00000319017.4:c.844-23dupT
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000438731
  ensembl transcript: ENST00000544097
  gene symbol: SLC25A20
  hgvsc: ENST00000544097.1:c.694-23dupT
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388563
  ensembl transcript: ENST00000440964
  gene symbol: SLC25A20
  hgvsc: ENST00000440964.1:c.*674-23dupT
  variant of: http://identifiers.org/hgnc/1421
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12255
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1301
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3399
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2996
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6617
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23023
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff

3-48895229-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48895229
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48895229
    reference: chr 3
allele count: 1
allele frequency: 9.332536956846348e-6
allele num: 107152
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl transcript: ENST00000479050
  gene symbol: SLC25A20
  hgvsc: ENST00000479050.1:n.163-24T>C
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388986
  ensembl transcript: ENST00000430379
  gene symbol: SLC25A20
  hgvsc: ENST00000430379.1:c.625-24T>C
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388563
  ensembl transcript: ENST00000440964
  gene symbol: SLC25A20
  hgvsc: ENST00000440964.1:c.*674-24T>C
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000326305
  ensembl transcript: ENST00000319017
  gene symbol: SLC25A20
  hgvsc: ENST00000319017.4:c.844-24T>C
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000438731
  ensembl transcript: ENST00000544097
  gene symbol: SLC25A20
  hgvsc: ENST00000544097.1:c.694-24T>C
  variant of: http://identifiers.org/hgnc/1421
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3673
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3353
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6616
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3390
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15448
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20999
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

3-48895234-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48895234
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48895234
    reference: chr 3
allele count: 15
allele frequency: 1.420024235080279e-4
allele num: 105632
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000326305
  ensembl transcript: ENST00000319017
  gene symbol: SLC25A20
  hgvsc: ENST00000319017.4:c.844-29C>T
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000438731
  ensembl transcript: ENST00000544097
  gene symbol: SLC25A20
  hgvsc: ENST00000544097.1:c.694-29C>T
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl transcript: ENST00000479050
  gene symbol: SLC25A20
  hgvsc: ENST00000479050.1:n.163-29C>T
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388563
  ensembl transcript: ENST00000440964
  gene symbol: SLC25A20
  hgvsc: ENST00000440964.1:c.*674-29C>T
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388986
  ensembl transcript: ENST00000430379
  gene symbol: SLC25A20
  hgvsc: ENST00000430379.1:c.625-29C>T
  variant of: http://identifiers.org/hgnc/1421
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6709
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5348
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 17766
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9990
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7899
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16127
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5075
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2557
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2872
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6631
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16228
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

3-48895235-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48895235
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 48895235
    reference: chr 3
allele count: 22
allele frequency: 2.089745051103765e-4
allele num: 105276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388563
  ensembl transcript: ENST00000440964
  gene symbol: SLC25A20
  hgvsc: ENST00000440964.1:c.*674-30G>A
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000438731
  ensembl transcript: ENST00000544097
  gene symbol: SLC25A20
  hgvsc: ENST00000544097.1:c.694-30G>A
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl transcript: ENST00000479050
  gene symbol: SLC25A20
  hgvsc: ENST00000479050.1:n.163-30G>A
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000326305
  ensembl transcript: ENST00000319017
  gene symbol: SLC25A20
  hgvsc: ENST00000319017.4:c.844-30G>A
  variant of: http://identifiers.org/hgnc/1421
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178537
  ensembl protein: ENSP00000388986
  ensembl transcript: ENST00000430379
  gene symbol: SLC25A20
  hgvsc: ENST00000430379.1:c.625-30G>A
  variant of: http://identifiers.org/hgnc/1421
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7527
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18002
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5745
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9624
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2719
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4265
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16327
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 8.25e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

3-48895236-C-T
type: Variant
location: Region
allele count: 0
allele frequency: 0.0e0
allele num: 104936
alternate allele: T
canonical: true
consequence: intron
filter: AC_Adj0_Filter
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 36
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 22974
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51372
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.428571428571429e-4
allele num: 7000
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3806
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6992
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8980
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

QD
type: SiteQuality
SIO_000300: 7.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e0

DP
type: SiteQuality
SIO_000300: 1.08309e6

MQ
type: SiteQuality
SIO_000300: 5.911e1

VQSLOD
type: SiteQuality
SIO_000300: -8.905e-1

GenotypeQuality
all individuals: 317
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3011
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.517911353976928e-4
allele num: 6588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13712
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47958
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.657e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.221e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.606e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.900000000000001e-3

QD
type: SiteQuality
SIO_000300: 2.52e0

DP
type: SiteQuality
SIO_000300: 9.92489e5

GenotypeQuality
all individuals: 3110
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26125
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3456
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.338742393509128e-5
allele num: 47328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8282
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13626
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.500000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.181e1

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.67e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

DP
type: SiteQuality
SIO_000300: 9.77175e5

GenotypeQuality
all individuals: 2593
bin: 3.25e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.570845114671693e-4
allele num: 6366
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 7.378984651711924e-5
allele num: 13552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8142
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6250
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3394
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.174e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.022e0

MQ
type: SiteQuality
SIO_000300: 5.901e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.53e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

DP
type: SiteQuality
SIO_000300: 9.57915e5

GenotypeQuality
all individuals: 214
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2810
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 524
num of homozygotes: 0

Latino
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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: 12706
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.463418239148643e-5
allele num: 40594
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.18472e5

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.833e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.485e0

VQSLOD
type: SiteQuality
SIO_000300: -7.84e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6986
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12706
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 1.067615658362989e-3
allele num: 2810
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40594
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.485e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.18e0

MQ
type: SiteQuality
SIO_000300: 5.833e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: -7.84e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

DP
type: SiteQuality
SIO_000300: 8.18472e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6094
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4940
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12144
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.772233311155467e-5
allele num: 36072
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2340
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.64e0

MQRankSum
type: SiteQuality
SIO_000300: -7.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.559e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.59e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.021e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.304e0

DP
type: SiteQuality
SIO_000300: 7.46456e5

GenotypeQuality
all individuals: 16
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variant carriers: 3

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5892
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 4.273504273504274e-3
allele num: 468
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4812
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 2.678571428571429e-3
allele num: 2240
num of homozygotes: 0

South Asian
type: Population
allele count: 58
allele frequency: 4.833333333333334e-3
allele num: 12000
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 77
allele frequency: 2.18774860779634e-3
allele num: 35196
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.28e-2

DP
type: SiteQuality
SIO_000300: 7.45591e5

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-2

QD
type: SiteQuality
SIO_000300: 1.227e1

VQSLOD
type: SiteQuality
SIO_000300: 2.7e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.590000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 13
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GenotypeQuality
all individuals: 515
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4812
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4598
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12000
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5892
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.988862370723946e-4
allele num: 35196
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.227e1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 5.590000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.28e-2

DP
type: SiteQuality
SIO_000300: 7.45591e5

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1061
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5892
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4812
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.841231958177066e-5
allele num: 35196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12000
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.45591e5

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.28e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-2

FS
type: SiteQuality
SIO_000300: 5.590000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

VQSLOD
type: SiteQuality
SIO_000300: 2.7e0

QD
type: SiteQuality
SIO_000300: 1.227e1

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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bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.848678213309025e-5
allele num: 35104
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5918
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4782
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2250
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.625e1

DP
type: SiteQuality
SIO_000300: 7.40609e5

FS
type: SiteQuality
SIO_000300: 7.671e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.63e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -7.190000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

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: 4782
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.357011532675916e-5
allele num: 11966
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 35104
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5918
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2250
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 464
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.92e-1

DP
type: SiteQuality
SIO_000300: 7.40609e5

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.63e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

FS
type: SiteQuality
SIO_000300: 7.671e0

MQRankSum
type: SiteQuality
SIO_000300: -3.86e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.625e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4730
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2252
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34758
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5834
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.77e-2

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 7.31787e5

MQ
type: SiteQuality
SIO_000300: 5.566e1

MQRankSum
type: SiteQuality
SIO_000300: -1.067e0

VQSLOD
type: SiteQuality
SIO_000300: -2.95e-1

FS
type: SiteQuality
SIO_000300: 7.074e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11874
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2202
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.206531332744925e-4
allele num: 4532
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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: 5816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34610
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 7.20238e5

FS
type: SiteQuality
SIO_000300: 4.834e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.96e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.65e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 30452
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
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Latino
type: Population
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allele frequency: 2.008032128514056e-4
allele num: 4980
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4040
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.11e-2

FS
type: SiteQuality
SIO_000300: 2.557e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

GenotypeQuality
all individuals: 833
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 831
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 8.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 29102
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3790
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4670
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3852
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.026900162484202e-5
allele num: 11078
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.3e0

QD
type: SiteQuality
SIO_000300: 1.202e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

DP
type: SiteQuality
SIO_000300: 6.42531e5

GenotypeQuality
all individuals: 26
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14120
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4969
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 29
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21148
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2922
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 914
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 6.901311249137336e-4
allele num: 2898
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 302
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.49e-1

QD
type: SiteQuality
SIO_000300: 6.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.728e0

VQSLOD
type: SiteQuality
SIO_000300: -1.242e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.03e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.49e-1

DP
type: SiteQuality
SIO_000300: 5.52071e5

GenotypeQuality
all individuals: 560
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3784
bin: 1.75e1
variant carriers: 3

Latino
type: Population
allele count: 7
allele frequency: 2.651515151515152e-3
allele num: 2640
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.075500107550011e-4
allele num: 9298
num of homozygotes: 0

African
type: Population
allele count: 62
allele frequency: 2.256186317321689e-2
allele num: 2748
num of homozygotes: 4

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2284
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19602
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.02e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 5.4113e5

FS
type: SiteQuality
SIO_000300: 1.149e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.405e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
all individuals: 586
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4888
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.367110347788751e-5
allele num: 18632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2682
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2104
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9074
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2416
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.1e-1

FS
type: SiteQuality
SIO_000300: 5.228e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

DP
type: SiteQuality
SIO_000300: 5.26673e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.25e-2

QD
type: SiteQuality
SIO_000300: 1.311e1

MQRankSum
type: SiteQuality
SIO_000300: 2.72e-1

GenotypeQuality
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2264
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.335113484646195e-4
allele num: 14980
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1692
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.617000000000001e0

DP
type: SiteQuality
SIO_000300: 4.66173e5

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.07e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.276e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.292e1

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3284
bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2236
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1612
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1550
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

FS
type: SiteQuality
SIO_000300: 2.808e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -7.018e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.666e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

DP
type: SiteQuality
SIO_000300: 4.59863e5

QD
type: SiteQuality
SIO_000300: 1.622e1

GenotypeQuality
all individuals: 20306
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 93
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14290
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7420
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.699999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.769e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.34e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.026e0

DP
type: SiteQuality
SIO_000300: 4.50914e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 6
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1022
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 910
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

FS
type: SiteQuality
SIO_000300: 1.639e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

MQRankSum
type: SiteQuality
SIO_000300: 4.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.85e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.92e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.133e0

DP
type: SiteQuality
SIO_000300: 4.04989e5

GenotypeQuality
all individuals: 12
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4004
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.394700139470014e-3
allele num: 1434
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5840
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.329787234042553e-3
allele num: 752
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.390820584144645e-4
allele num: 7190
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 138
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.881e0

QD
type: SiteQuality
SIO_000300: 3.4e-1

MQ
type: SiteQuality
SIO_000300: 5.865e1

FS
type: SiteQuality
SIO_000300: 2.46066e2

VQSLOD
type: SiteQuality
SIO_000300: -2.726e2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.82e-2

DP
type: SiteQuality
SIO_000300: 3.92279e5

GenotypeQuality
all individuals: 37
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2475
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.912777352716144e-4
allele num: 5228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8188
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1736
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.454e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

QD
type: SiteQuality
SIO_000300: 9.94e0

DP
type: SiteQuality
SIO_000300: 3.94421e5

VQSLOD
type: SiteQuality
SIO_000300: -5.839e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.58e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.32e-1

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.037489812550937e-4
allele num: 4908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 228
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1790
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.652e0

MQRankSum
type: SiteQuality
SIO_000300: -1.68e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.24e-2

QD
type: SiteQuality
SIO_000300: 6.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.661e0

DP
type: SiteQuality
SIO_000300: 4.03625e5

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 4.240882103477523e-4
allele num: 4716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 948
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1810
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.09e-2

FS
type: SiteQuality
SIO_000300: 1.115e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.0754e5

QD
type: SiteQuality
SIO_000300: 1.182e1

GenotypeQuality
all individuals: 1280
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8762
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4412
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 5.506607929515419e-4
allele num: 1816
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 986
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.78e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.479e1

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 4.1522e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
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allele count: 1
allele frequency: 8.561643835616438e-4
allele num: 1168
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4030
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 9940
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1908
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.95e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.558e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.134e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.011e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.788e0

FS
type: SiteQuality
SIO_000300: 2.398e0

MQRankSum
type: SiteQuality
SIO_000300: -1.788e0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1928
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 304
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1000
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1188
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3974
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 1.995211492418196e-4
allele num: 10024
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.91e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.15e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.204e1

MQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

FS
type: SiteQuality
SIO_000300: 5.142e0

DP
type: SiteQuality
SIO_000300: 4.51887e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2024
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1328
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 138
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3850
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.27e-1

DP
type: SiteQuality
SIO_000300: 4.7278e5

VQSLOD
type: SiteQuality
SIO_000300: -5.635e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.58e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 8.789999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2052
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1402
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3784
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 1.703577512776831e-4
allele num: 11740
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.699e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.80343e5

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

FS
type: SiteQuality
SIO_000300: 3.215e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.52e-1

QD
type: SiteQuality
SIO_000300: 2.964e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.041e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.54e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1942
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.917152858809801e-4
allele num: 3428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2022
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16020
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.73e-1

FS
type: SiteQuality
SIO_000300: 3.185e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.07e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
SIO_000300: 1.286e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.093e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

DP
type: SiteQuality
SIO_000300: 5.34469e5

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.483658697082694e-5
allele num: 18236
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2376
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3112
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

DP
type: SiteQuality
SIO_000300: 5.53787e5

FS
type: SiteQuality
SIO_000300: 4.707e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.12e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.137e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 1.725e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.66e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1221
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 1.493651979088872e-3
allele num: 2678
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18420
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.853e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.04e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.453e0

QD
type: SiteQuality
SIO_000300: 7.86e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.28349e5

GenotypeQuality
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variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
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African
type: Population
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allele frequency: 0.0e0
allele num: 2438
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2358
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 1.085776330076004e-4
allele num: 18420
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2678
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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FS
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BaseQRankSum
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.28349e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 168
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East Asian
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 5.52730488613752e-5
allele num: 18092
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
allele num: 2556
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 744
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2476
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BaseQRankSum
type: SiteQuality
SIO_000300: -7.88e-1

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.19e-2

FS
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 744
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 6.080035374751271e-4
allele num: 18092
num of homozygotes: 0

African
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allele num: 2388
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Other
type: Population
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allele frequency: 0.0e0
allele num: 168
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Latino
type: Population
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allele frequency: 0.0e0
allele num: 2476
num of homozygotes: 0

East Asian
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num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2556
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.316e0

BaseQRankSum
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.19e-2

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1692
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 436
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
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African
type: Population
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allele frequency: 0.0e0
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South Asian
type: Population
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allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1914
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.42836737608913e-4
allele num: 14002
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.97445e5

VQSLOD
type: SiteQuality
SIO_000300: -1.937e0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.246e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

GenotypeQuality
all individuals: 11
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12242
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1348
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 100
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.21e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

DP
type: SiteQuality
SIO_000300: 3.4707e5

QD
type: SiteQuality
SIO_000300: 9.140000000000001e0

GenotypeQuality
all individuals: 300
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.84251968503937e-4
allele num: 1016
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10720
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1094
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1274
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.575e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

DP
type: SiteQuality
SIO_000300: 3.13619e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.77e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQRankSum
type: SiteQuality
SIO_000300: -3.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.155e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 48
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6345
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variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4742
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.25e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.731e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.19e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.947e1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 2.25951e5

GenotypeQuality
all individuals: 122
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9709
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30662
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 100
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.077274615704196e-4
allele num: 4814
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.433e1

VQSLOD
type: SiteQuality
SIO_000300: -2.388e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.186e0

DP
type: SiteQuality
SIO_000300: 2.47289e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

MQ
type: SiteQuality
SIO_000300: 5.662e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

GenotypeQuality
all individuals: 40
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4411
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4814
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 100
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 370
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.47289e5

MQ
type: SiteQuality
SIO_000300: 5.662e1

QD
type: SiteQuality
SIO_000300: 1.433e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.388e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.186e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-2

GenotypeQuality
all individuals: 7
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.249212775528565e-4
allele num: 4446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.74e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

VQSLOD
type: SiteQuality
SIO_000300: -1.695e0

QD
type: SiteQuality
SIO_000300: 1.595e1

MQ
type: SiteQuality
SIO_000300: 5.787e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQRankSum
type: SiteQuality
SIO_000300: -7.17e-1

DP
type: SiteQuality
SIO_000300: 2.4728e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.031e0

GenotypeQuality
all individuals: 17
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 342
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.225189141076991e-4
allele num: 4494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 96
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.78e-1

QD
type: SiteQuality
SIO_000300: 1.661e1

MQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

MQ
type: SiteQuality
SIO_000300: 5.787e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.223e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

DP
type: SiteQuality
SIO_000300: 2.48341e5

GenotypeQuality
all individuals: 4200
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.958579881656805e-3
allele num: 338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4260
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 84
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.22e-1

DP
type: SiteQuality
SIO_000300: 2.50757e5

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 8.94e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.809999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3847
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1221
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2430
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8126
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.60763843002511e-5
allele num: 15134
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.574852751267756e-5
allele num: 63498
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.936108422071636e-4
allele num: 10330
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6274
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.116850127011008e-4
allele num: 9448
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.02e0

VQSLOD
type: SiteQuality
SIO_000300: 5.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.549685e6

MQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.23e-1

FS
type: SiteQuality
SIO_000300: 2.147e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.872e0

GenotypeQuality
all individuals: 778
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2292
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1208
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.148713750432948e-5
allele num: 63518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6298
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15162
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8140
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9464
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 9.087999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.51e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

QD
type: SiteQuality
SIO_000300: 1.23e1

VQSLOD
type: SiteQuality
SIO_000300: -5.96e-2

DP
type: SiteQuality
SIO_000300: 1.55868e6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 8.25e1
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GenotypeQuality
all individuals: 3838
bin: 2.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8140
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6298
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9464
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.978630787495053e-4
allele num: 15162
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.96e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.51e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

DP
type: SiteQuality
SIO_000300: 1.55868e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

FS
type: SiteQuality
SIO_000300: 9.087999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 5.8e-2

QD
type: SiteQuality
SIO_000300: 1.23e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1495
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 778
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GenotypeQuality
all individuals: 671
bin: 4.75e1
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GenotypeQuality
all individuals: 536
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6358
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15250
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.561329003247564e-5
allele num: 64048
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.28e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.509e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.75e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.946e1

VQSLOD
type: SiteQuality
SIO_000300: 7.43e-1

FS
type: SiteQuality
SIO_000300: 3.014e0

DP
type: SiteQuality
SIO_000300: 1.627048e6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 378
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.659398005777654e-5
allele num: 64386
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10704
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9662
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8298
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15324
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.832e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.661849e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e-1

FS
type: SiteQuality
SIO_000300: 3.943e0

QD
type: SiteQuality
SIO_000300: 9.19e0

VQSLOD
type: SiteQuality
SIO_000300: 1.19e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.854943424225561e-4
allele num: 10782
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15372
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9710
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 8.061999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.71e-1

DP
type: SiteQuality
SIO_000300: 1.676335e6

VQSLOD
type: SiteQuality
SIO_000300: -4.621e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-1

QD
type: SiteQuality
SIO_000300: 9.359999999999999e0

GenotypeQuality
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variant carriers: 14

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 791
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

East Asian
type: Population
allele count: 13
allele frequency: 1.5450439743285e-3
allele num: 8414
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10836
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.48760866744518e-5
allele num: 15414
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64744
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.53e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-2

DP
type: SiteQuality
SIO_000300: 1.687025e6

QD
type: SiteQuality
SIO_000300: 1.268e1

VQSLOD
type: SiteQuality
SIO_000300: 2.97e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.74e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534495457893445e-5
allele num: 65168
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9820
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10996
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

VQSLOD
type: SiteQuality
SIO_000300: -4.098e-1

DP
type: SiteQuality
SIO_000300: 1.709913e6

MQ
type: SiteQuality
SIO_000300: 5.889e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.142e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6632
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variant carriers: 1

GenotypeQuality
all individuals: 818
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9820
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11000
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.174536058256989e-4
allele num: 8514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65176
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.285e1

VQSLOD
type: SiteQuality
SIO_000300: -1.084e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

DP
type: SiteQuality
SIO_000300: 1.710696e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.64e-1

MQ
type: SiteQuality
SIO_000300: 5.9e1

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

FS
type: SiteQuality
SIO_000300: 8.042e0

GenotypeQuality
all individuals: 4781
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variant carriers: 0

GenotypeQuality
all individuals: 6632
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 425
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variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.597278411180581e-5
allele num: 65256
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9864
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11018
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -4.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 7.809e0

DP
type: SiteQuality
SIO_000300: 1.715861e6

MQRankSum
type: SiteQuality
SIO_000300: 7.95e-1

QD
type: SiteQuality
SIO_000300: 8.5e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.32e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15606
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.040745996351105e-4
allele num: 9866
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11020
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65244
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.543e0

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.716434e6

MQRankSum
type: SiteQuality
SIO_000300: -6.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e-1

QD
type: SiteQuality
SIO_000300: 1.149e1

GenotypeQuality
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GenotypeQuality
all individuals: 34
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9868
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 0.0e0
allele num: 15614
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53261402648357e-5
allele num: 65248
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11018
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.81e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.821e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.607e0

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

DP
type: SiteQuality
SIO_000300: 1.719226e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1159
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 301
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GenotypeQuality
all individuals: 148
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9874
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15618
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.072763563781528e-5
allele num: 11022
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.41e-1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.079e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.01e0

DP
type: SiteQuality
SIO_000300: 1.719178e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 354
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GenotypeQuality
all individuals: 1158
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

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

African
type: Population
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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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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6494
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Latino
type: Population
allele count: 1
allele frequency: 9.09090909090909e-5
allele num: 11000
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.51e-1

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.038e0

MQRankSum
type: SiteQuality
SIO_000300: -6.15e-1

DP
type: SiteQuality
SIO_000300: 1.718854e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 28
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GenotypeQuality
all individuals: 403
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GenotypeQuality
all individuals: 399
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GenotypeQuality
all individuals: 6631
bin: 9.75e1
variant carriers: 3

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9822
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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: 8466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 2
allele frequency: 3.090234857849196e-4
allele num: 6472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537137235612395e-5
allele num: 65056
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.339e0

DP
type: SiteQuality
SIO_000300: 1.713493e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.92e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.417e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

GenotypeQuality
all individuals: 532
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 775
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1105
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.550676094777323e-5
allele num: 64488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10750
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9726
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15400
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.092e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.44e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.466e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.91e0

MQ
type: SiteQuality
SIO_000300: 5.871e1

FS
type: SiteQuality
SIO_000300: 9.294e0

MQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

DP
type: SiteQuality
SIO_000300: 1.696171e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

GenotypeQuality
all individuals: 258
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1197
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.870207593042828e-4
allele num: 10694
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8362
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9708
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15346
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 5.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.378e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.342e1

DP
type: SiteQuality
SIO_000300: 1.692544e6

GenotypeQuality
all individuals: 527
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6625
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 826
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6280
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.049979000419992e-4
allele num: 9524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8146
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.75e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.977e0

DP
type: SiteQuality
SIO_000300: 1.656005e6

VQSLOD
type: SiteQuality
SIO_000300: 7.199999999999999e-2

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1025
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63208
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.60763843002511e-5
allele num: 15134
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.15e-1

DP
type: SiteQuality
SIO_000300: 1.651237e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e-1

FS
type: SiteQuality
SIO_000300: 1.841e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.158e0

QD
type: SiteQuality
SIO_000300: 9.1e0

VQSLOD
type: SiteQuality
SIO_000300: 3.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62546
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.728560775540641e-4
allele num: 8046
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10046
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6180
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15020
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.047e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.08e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

FS
type: SiteQuality
SIO_000300: 1.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e-1

DP
type: SiteQuality
SIO_000300: 1.62109e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

GenotypeQuality
all individuals: 339
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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: 966
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variant carriers: 0

GenotypeQuality
all individuals: 29915
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6096
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7904
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9836
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.615874349610574e-5
allele num: 61886
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

QD
type: SiteQuality
SIO_000300: 1.253e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.683e0

DP
type: SiteQuality
SIO_000300: 1.590886e6

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14918
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.238971302714258e-5
allele num: 61748
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: 7886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9272
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: 5.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

QD
type: SiteQuality
SIO_000300: 1.246e1

DP
type: SiteQuality
SIO_000300: 1.581414e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 521
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variant carriers: 0

GenotypeQuality
all individuals: 413
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5976
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7756
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.64538633671186e-5
allele num: 60776
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14788
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.24e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.533738e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.29e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9038
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.660798511924533e-5
allele num: 60212
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 14638
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5934
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.899e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.65e-1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.43e0

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-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
all individuals: 327
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14606
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9248
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7634
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5912
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.111111111111111e-4
allele num: 9000
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59956
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.494e0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.04e-1

DP
type: SiteQuality
SIO_000300: 1.468802e6

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

GenotypeQuality
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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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59232
num of homozygotes: 0

Other
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
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Latino
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allele count: 15
allele frequency: 1.665926254997779e-3
allele num: 9004
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5810
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.410007e6

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.881e0

VQSLOD
type: SiteQuality
SIO_000300: 7.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.77e-1

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2827
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5297
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15558
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6631
bin: 9.75e1
variant carriers: 20

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14454
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 4.472271914132379e-4
allele num: 8944
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5792
num of homozygotes: 0

African
type: Population
allele count: 14
allele frequency: 1.591632560254661e-3
allele num: 8796
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.774838250736763e-5
allele num: 59042
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.40076e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.82e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.376e1

MQRankSum
type: SiteQuality
SIO_000300: 2.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.532e0

VQSLOD
type: SiteQuality
SIO_000300: 6.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3