2-211532997-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211532997
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211532997
    reference: chr 2
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2737A>G
  hgvsp: ENSP00000406136.2:p.Ile913Val
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4108A>G
  hgvsp: ENSP00000402608.2:p.Ile1370Val
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4090A>G
  hgvsp: ENSP00000233072.5:p.Ile1364Val
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 785
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37367
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2730
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7144
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7400
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile1370Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

2-211533002-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211533002
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211533002
    reference: chr 2
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4095C>T
  hgvsp: ENST00000233072.5:c.4095C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4113C>T
  hgvsp: ENST00000430249.2:c.4113C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2742C>T
  hgvsp: ENST00000451903.2:c.2742C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8285
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7400
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 7
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genotype quality: GenotypeQuality
  all individuals: 14
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genotype quality: GenotypeQuality
  all individuals: 37351
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genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2731
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7147
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly1371Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

2-211533005-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211533005
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211533005
    reference: chr 2
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4098C>T
  hgvsp: ENST00000233072.5:c.4098C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4116C>T
  hgvsp: ENST00000430249.2:c.4116C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2745C>T
  hgvsp: ENST00000451903.2:c.2745C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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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: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 883
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7399
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  variant carriers: 1
hgvs: p.Ile1372Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD

2-211533010-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211533010
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211533010
    reference: chr 2
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4101+2T>C
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2748+2T>C
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4119+2T>C
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7400
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.25e1
  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 883
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2391
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2733
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
hgvs: c.4119+2T>C
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

2-211533015-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211533015
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211533015
    reference: chr 2
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2748+7G>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4119+7G>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4101+7G>A
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37297
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7402
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7136
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 8.75e1
  variant carriers: 0
hgvs: c.4119+7G>A
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

2-211533016-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211533016
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211533016
    reference: chr 2
allele count: 3
allele frequency: 2.472676920033628e-5
allele num: 121326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2748+8G>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4101+8G>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4119+8G>A
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8280
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7130
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2387
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7404
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37252
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
hgvs: c.4119+8G>A
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

2-211533022-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211533022
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211533022
    reference: chr 2
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2748+14G>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4101+14G>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4119+14G>A
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8279
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7125
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 885
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37243
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 787
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 50
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genotype quality: GenotypeQuality
  all individuals: 7404
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genotype quality: GenotypeQuality
  all individuals: 102
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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: 11
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

2-211533023-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211533023
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211533023
    reference: chr 2
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2748+15G>C
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4119+15G>C
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4101+15G>C
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7124
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1871
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7405
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
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genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2726
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37225
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD

2-211533031-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211533031
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211533031
    reference: chr 2
allele count: 3
allele frequency: 2.473410833539451e-5
allele num: 121290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2748+23C>T
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4101+23C>T
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4119+23C>T
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8300
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7141
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37082
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2723
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7409
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

2-211533032-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211533032
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211533032
    reference: chr 2
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2748+24T>C
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4119+24T>C
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4101+24T>C
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7146
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2725
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37031
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7409
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

2-211533036-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211533036
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211533036
    reference: chr 2
allele count: 1
allele frequency: 8.246878556466378e-6
allele num: 121258
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4119+28C>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2748+28C>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4101+28C>G
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2395
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36939
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7409
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7151
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-211533038-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211533038
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211533038
    reference: chr 2
allele count: 3
allele frequency: 2.474104374216534e-5
allele num: 121256
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2748+30A>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4119+30A>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4101+30A>G
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7415
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 36624
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7091
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2718
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-211533042-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211533042
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211533042
    reference: chr 2
allele count: 7
allele frequency: 5.773672055427252e-5
allele num: 121240
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2748+34T>C
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4101+34T>C
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4119+34T>C
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8369
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39562
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7423
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36741
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

2-211533050-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211533050
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211533050
    reference: chr 2
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4119+42G>T
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4101+42G>T
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2748+42G>T
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4081
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1874
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36234
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2401
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7082
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7420
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

2-211539577-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211539577
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211539577
    reference: chr 2
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4120-49T>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4102-49T>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2749-49T>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3239T>G
  variant of: http://identifiers.org/hgnc/2323
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8772
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9729
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4102
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4444
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3919
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4263
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD

2-211539578-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211539578
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211539578
    reference: chr 2
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2749-48G>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3240G>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4120-48G>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4102-48G>A
  variant of: http://identifiers.org/hgnc/2323
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30631
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4451
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4076
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3917
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2299
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4246
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

2-211539583-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211539583
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211539583
    reference: chr 2
allele count: 1
allele frequency: 8.256820133430213e-6
allele num: 121112
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4120-43G>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2749-43G>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3245G>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4102-43G>A
  variant of: http://identifiers.org/hgnc/2323
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9802
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2474
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30630
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4451
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4214
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3909
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7602
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-211539589-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211539589
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211539589
    reference: chr 2
allele count: 1
allele frequency: 8.249872126982032e-6
allele num: 121214
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4120-37A>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3251A>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2749-37A>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4102-37A>G
  variant of: http://identifiers.org/hgnc/2323
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9805
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8790
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4239
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2482
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7904
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30639
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ

2-211539591-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211539591
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211539591
    reference: chr 2
allele count: 1
allele frequency: 8.249191579225235e-6
allele num: 121224
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3253A>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2749-35A>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4120-35A>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4102-35A>G
  variant of: http://identifiers.org/hgnc/2323
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8797
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7206
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30641
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4099
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3912
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4504
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8034
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2481
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

2-211539601-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211539601
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211539601
    reference: chr 2
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2749-25T>C
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4120-25T>C
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3263T>C
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4102-25T>C
  variant of: http://identifiers.org/hgnc/2323
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3658
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8264
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8810
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30636
  bin: 9.75e1
  variant carriers: 1
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: 4508
  bin: 6.75e1
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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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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4100
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3915
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genotype quality: GenotypeQuality
  all individuals: 7
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genotype quality: GenotypeQuality
  all individuals: 4230
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8194
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

2-211539612-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211539612
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211539612
    reference: chr 2
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3274A>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4102-14A>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2749-14A>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4120-14A>G
  variant of: http://identifiers.org/hgnc/2323
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8303
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8804
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2469
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8335
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3911
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4107
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4232
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

2-211539618-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211539618
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211539618
    reference: chr 2
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2749-8C>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4120-8C>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4102-8C>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3280C>G
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9843
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2469
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4537
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3911
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4235
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8371
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30640
  bin: 9.75e1
  variant carriers: 1
hgvs: c.4120-8C>G
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

2-211539635-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211539635
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211539635
    reference: chr 2
allele count: 6
allele frequency: 4.945516888940176e-5
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4111C>T
  hgvsp: ENSP00000233072.5:p.Arg1371Trp
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3297C>T
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2758C>T
  hgvsp: ENSP00000406136.2:p.Arg920Trp
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4129C>T
  hgvsp: ENSP00000402608.2:p.Arg1377Trp
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3659
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3775
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30643
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4547
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2468
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2311
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg1377Trp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-211539636-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211539636
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211539636
    reference: chr 2
allele count: 4
allele frequency: 3.297011259293451e-5
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3298G>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2759G>A
  hgvsp: ENSP00000406136.2:p.Arg920Gln
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4130G>A
  hgvsp: ENSP00000402608.2:p.Arg1377Gln
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4112G>A
  hgvsp: ENSP00000233072.5:p.Arg1371Gln
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3660
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8325
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5384
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30644
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3912
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4547
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4101
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg1377Gln
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

2-211539650-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211539650
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211539650
    reference: chr 2
allele count: 1429
allele frequency: 1.177876689746126e-2
allele num: 121320
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4144G>A
  hgvsp: ENSP00000402608.2:p.Gly1382Ser
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2773G>A
  hgvsp: ENSP00000406136.2:p.Gly925Ser
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4126G>A
  hgvsp: ENSP00000233072.5:p.Gly1376Ser
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3312G>A
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4546
  bin: 9.75e1
  variant carriers: 886
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 6.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 7.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 7040
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 6.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 5.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8626
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 7.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 5257
  bin: 4.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 9683
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 8.75e1
  variant carriers: 69
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 9.25e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 8.25e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 8229
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2433
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4030
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3846
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8337
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly1382Ser
num of homozygotes: 22
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

2-211539651-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211539651
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211539651
    reference: chr 2
allele count: 2
allele frequency: 1.648532805802836e-5
allele num: 121320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4127G>A
  hgvsp: ENSP00000233072.5:p.Gly1376Asp
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3313G>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4145G>A
  hgvsp: ENSP00000402608.2:p.Gly1382Asp
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2774G>A
  hgvsp: ENSP00000406136.2:p.Gly925Asp
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4132
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3931
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8519
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4612
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30366
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly1382Asp
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

2-211539652-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211539652
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211539652
    reference: chr 2
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4146T>C
  hgvsp: ENST00000430249.2:c.4146T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3314T>C
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4128T>C
  hgvsp: ENST00000233072.5:c.4128T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2775T>C
  hgvsp: ENST00000451903.2:c.2775T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3365
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30366
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4132
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3931
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8521
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2482
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly1382Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP

2-211539658-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211539658
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211539658
    reference: chr 2
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3320T>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2781T>G
  hgvsp: ENST00000451903.2:c.2781T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4134T>G
  hgvsp: ENST00000233072.5:c.4134T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4152T>G
  hgvsp: ENST00000430249.2:c.4152T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4131
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3931
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4612
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8517
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala1384Ala
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

2-211539668-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211539668
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211539668
    reference: chr 2
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2791C>T
  hgvsp: ENSP00000406136.2:p.His931Tyr
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3330C>T
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4144C>T
  hgvsp: ENSP00000233072.5:p.His1382Tyr
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4162C>T
  hgvsp: ENSP00000402608.2:p.His1388Tyr
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3645
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8418
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3359
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4610
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4255
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8509
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30367
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2482
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4131
  bin: 8.25e1
  variant carriers: 0
hgvs: p.His1388Tyr
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

2-211539672-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211539672
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211539672
    reference: chr 2
allele count: 2
allele frequency: 1.648641519388024e-5
allele num: 121312
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4148A>G
  hgvsp: ENSP00000233072.5:p.Asn1383Ser
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3334A>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4166A>G
  hgvsp: ENSP00000402608.2:p.Asn1389Ser
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2795A>G
  hgvsp: ENSP00000406136.2:p.Asn932Ser
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7201
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4609
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2483
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8502
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3931
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn1389Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-211539685-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211539685
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211539685
    reference: chr 2
allele count: 7
allele frequency: 5.771006463527239e-5
allele num: 121296
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4179G>A
  hgvsp: ENST00000430249.2:c.4179G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2808G>A
  hgvsp: ENST00000451903.2:c.2808G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4161G>A
  hgvsp: ENST00000233072.5:c.4161G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3347G>A
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7201
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8420
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8812
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8475
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3931
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30368
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4607
  bin: 6.75e1
  variant carriers: 0
hgvs: c.4179G>A
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP

2-211539688-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211539688
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211539688
    reference: chr 2
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4179+3A>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4161+3A>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2808+3A>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3347+3A>G
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4610
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3931
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30364
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2482
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4131
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 8.75e1
  variant carriers: 0
hgvs: c.4179+3A>G
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

2-211539689-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211539689
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211539689
    reference: chr 2
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4179+4T>C
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4161+4T>C
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3347+4T>C
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2808+4T>C
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7200
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8811
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2482
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3931
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8452
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 8.75e1
  variant carriers: 0
hgvs: c.4179+4T>C
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

2-211539697-AGTTTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211539697
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211539692
    reference: chr 2
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3347+13_3347+17delGTTTT
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4179+13_4179+17delGTTTT
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2808+13_2808+17delGTTTT
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4161+13_4161+17delGTTTT
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 3250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8810
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8400
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7200
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30365
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8385
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3930
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2477
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4131
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: AGTTTT
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum

2-211539718-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211539718
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211539718
    reference: chr 2
allele count: 4
allele frequency: 3.299894403379092e-5
allele num: 121216
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2808+33A>T
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4179+33A>T
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3347+33A>T
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4161+33A>T
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8803
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3644
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5382
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4500
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7792
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4125
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2328
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30358
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2465
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4245
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

2-211539721-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211539721
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211539721
    reference: chr 2
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3347+36A>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4179+36A>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4161+36A>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2808+36A>G
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9781
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5381
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7193
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8792
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30353
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 73
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4123
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7539
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4455
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

2-211539722-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211539722
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211539722
    reference: chr 2
allele count: 1
allele frequency: 8.25082508250825e-6
allele num: 121200
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2808+37T>C
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3347+37T>C
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4179+37T>C
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4161+37T>C
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9761
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8787
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5383
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2324
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3924
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4443
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30353
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/2-211539733-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211539733
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211539733
    reference: chr 2
allele count: 1
allele frequency: 8.256547442121603e-6
allele num: 121116
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4179+48C>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2808+48C>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4161+48C>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3347+48C>A
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8734
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 30337
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4171
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3907
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
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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: 157
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5416
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

2-211539735-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211539735
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211539735
    reference: chr 2
allele count: 1
allele frequency: 8.256411103221652e-6
allele num: 121118
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2808+50C>T
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4179+50C>T
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4161+50C>T
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3347+50C>T
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8724
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3785
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3643
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9223
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3910
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4179
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4082
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4919
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 372
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4071
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff

2-211540403-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540403
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540403
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 109248
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2809-49A>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3348-49A>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4180-49A>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4162-49A>G
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5235
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10908
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 488
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genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

2-211540404-TAAG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540404
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540401
    reference: chr 2
allele count: 10
allele frequency: 9.157676880528947e-5
allele num: 109198
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4180-45_4180-43delGAA
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2809-45_2809-43delGAA
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3348-45_3348-43delGAA
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4162-45_4162-43delGAA
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11803
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1334
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  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
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 1
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: 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
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
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  variant carriers: 0
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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: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3580
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5367
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9590
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4872
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: TAAG
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

2-211540404-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540404
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540404
    reference: chr 2
allele count: 29
allele frequency: 2.655726295353395e-4
allele num: 109198
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4180-48T>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3348-48T>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4162-48T>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2809-48T>A
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5216
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5571
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12685
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11803
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12033
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10908
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 5367
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 3368
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 3061
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 4296
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 3580
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9590
  bin: 9.75e1
  variant carriers: 28
num of homozygotes: 1
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/2-211540409-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540409
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540409
    reference: chr 2
allele count: 1
allele frequency: 9.129251949095291e-6
allele num: 109538
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3348-43A>C
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4162-43A>C
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4180-43A>C
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2809-43A>C
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2531
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12203
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7513
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 285
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genotype quality: GenotypeQuality
  all individuals: 498
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4860
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3590
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5345
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1581
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 385
  bin: 7.5e0
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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: 332
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genotype quality: GenotypeQuality
  all individuals: 1122
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genotype quality: GenotypeQuality
  all individuals: 2622
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9571
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

2-211540415-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540415
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540415
    reference: chr 2
allele count: 3
allele frequency: 2.722965490950678e-5
allele num: 110174
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4180-37T>C
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2809-37T>C
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4162-37T>C
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3348-37T>C
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23298
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9259
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2722
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1347
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP

2-211540422-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540422
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540422
    reference: chr 2
allele count: 6
allele frequency: 5.364423145697733e-5
allele num: 111848
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4180-30C>T
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3348-30C>T
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4162-30C>T
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2809-30C>T
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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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: 1813
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

2-211540423-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540423
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540423
    reference: chr 2
allele count: 4
allele frequency: 3.563728372623439e-5
allele num: 112242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2809-29G>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4180-29G>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3348-29G>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4162-29G>A
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3231
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4682
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9605
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2209
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4169
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28806
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

2-211540425-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540425
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540425
    reference: chr 2
allele count: 1
allele frequency: 8.83033396323049e-6
allele num: 113246
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3348-27T>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4162-27T>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4180-27T>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2809-27T>G
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3753
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29890
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9644
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3798
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4697
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1963
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29758
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

2-211540426-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540426
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540426
    reference: chr 2
allele count: 1
allele frequency: 8.783641346356545e-6
allele num: 113848
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4162-26A>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3348-26A>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4180-26A>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2809-26A>G
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30907
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4882
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3563
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1005
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9647
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD

2-211540440-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540440
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540440
    reference: chr 2
allele count: 1
allele frequency: 8.448086508405846e-6
allele num: 118370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3348-12T>C
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4162-12T>C
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2809-12T>C
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4180-12T>C
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3882
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35219
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5353
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

2-211540454-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540454
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540454
    reference: chr 2
allele count: 2
allele frequency: 1.658567329540743e-5
allele num: 120586
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2811G>A
  hgvsp: ENST00000451903.2:c.2811G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4164G>A
  hgvsp: ENST00000233072.5:c.4164G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4182G>A
  hgvsp: ENST00000430249.2:c.4182G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3350G>A
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35123
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10191
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5599
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1906
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36842
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9737
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 9.25e1
  variant carriers: 0
hgvs: c.4182G>A
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

2-211540463-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540463
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540463
    reference: chr 2
allele count: 8
allele frequency: 6.61802418887841e-5
allele num: 120882
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4173G>A
  hgvsp: ENST00000233072.5:c.4173G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4191G>A
  hgvsp: ENST00000430249.2:c.4191G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2820G>A
  hgvsp: ENST00000451903.2:c.2820G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3359G>A
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4264
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10371
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5674
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2406
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36899
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr1397Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

2-211540473-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540473
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540473
    reference: chr 2
allele count: 1
allele frequency: 8.259548037531387e-6
allele num: 121072
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2830T>A
  hgvsp: ENSP00000406136.2:p.Ser944Thr
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4201T>A
  hgvsp: ENSP00000402608.2:p.Ser1401Thr
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3369T>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4183T>A
  hgvsp: ENSP00000233072.5:p.Ser1395Thr
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2422
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36875
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1939
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser1401Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-211540487-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540487
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540487
    reference: chr 2
allele count: 1
allele frequency: 8.254094030639197e-6
allele num: 121152
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4215C>A
  hgvsp: ENSP00000402608.2:p.Asn1405Lys
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2844C>A
  hgvsp: ENSP00000406136.2:p.Asn948Lys
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3383C>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4197C>A
  hgvsp: ENSP00000233072.5:p.Asn1399Lys
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36811
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5737
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn1405Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

2-211540487-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540487
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540487
    reference: chr 2
allele count: 3
allele frequency: 2.476228209191759e-5
allele num: 121152
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4215C>T
  hgvsp: ENST00000430249.2:c.4215C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4197C>T
  hgvsp: ENST00000233072.5:c.4197C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2844C>T
  hgvsp: ENST00000451903.2:c.2844C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3383C>T
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36811
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9817
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Asn1405Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

2-211540488-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540488
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540488
    reference: chr 2
allele count: 3
allele frequency: 2.476228209191759e-5
allele num: 121152
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3384G>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4216G>A
  hgvsp: ENSP00000402608.2:p.Ala1406Thr
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2845G>A
  hgvsp: ENSP00000406136.2:p.Ala949Thr
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4198G>A
  hgvsp: ENSP00000233072.5:p.Ala1400Thr
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10600
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36790
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9820
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2449
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala1406Thr
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

2-211540495-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540495
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540495
    reference: chr 2
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4223A>G
  hgvsp: ENSP00000402608.2:p.Asn1408Ser
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3391A>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4205A>G
  hgvsp: ENSP00000233072.5:p.Asn1402Ser
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2852A>G
  hgvsp: ENSP00000406136.2:p.Asn951Ser
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36788
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5738
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9827
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2457
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn1408Ser
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/2-211540507-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540507
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540507
    reference: chr 2
allele count: 36772
allele frequency: 3.033893270849147e-1
allele num: 121204
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4217C>A
  hgvsp: ENSP00000233072.5:p.Thr1406Asn
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3403C>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  clinical significance: benign&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4235C>A
  hgvsp: ENSP00000402608.2:p.Thr1412Asn
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2864C>A
  hgvsp: ENSP00000406136.2:p.Thr955Asn
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 4.75e1
  variant carriers: 1868
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 3.75e1
  variant carriers: 1269
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 6.25e1
  variant carriers: 2394
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 6.75e1
  variant carriers: 2288
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 4.25e1
  variant carriers: 1622
genotype depth: GenotypeDepth
  all individuals: 17023
  bin: 2.25e1
  variant carriers: 220
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 3.25e1
  variant carriers: 836
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 6456
  bin: 2.75e1
  variant carriers: 481
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 5.25e1
  variant carriers: 2115
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 7.25e1
  variant carriers: 2186
genotype depth: GenotypeDepth
  all individuals: 2382
  bin: 7.75e1
  variant carriers: 2016
genotype depth: GenotypeDepth
  all individuals: 7893
  bin: 9.75e1
  variant carriers: 7354
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 8.25e1
  variant carriers: 1675
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 8.75e1
  variant carriers: 1316
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 5.75e1
  variant carriers: 2260
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 9.25e1
  variant carriers: 1106
genotype quality: GenotypeQuality
  all individuals: 2375
  bin: 6.75e1
  variant carriers: 57
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 20549
  bin: 6.25e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 34555
  bin: 9.75e1
  variant carriers: 30431
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 9.25e1
  variant carriers: 93
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 8.25e1
  variant carriers: 93
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 13
hgvs: p.Thr1412Asn
num of homozygotes: 5692
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

2-211540521-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540521
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540521
    reference: chr 2
allele count: 2
allele frequency: 1.650491846570278e-5
allele num: 121176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2878C>T
  hgvsp: ENSP00000406136.2:p.Pro960Ser
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4249C>T
  hgvsp: ENSP00000402608.2:p.Pro1417Ser
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4231C>T
  hgvsp: ENSP00000233072.5:p.Pro1411Ser
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3417C>T
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6017
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9000
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39553
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro1417Ser
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ

2-211540523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540523
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540523
    reference: chr 2
allele count: 3
allele frequency: 2.475778632379884e-5
allele num: 121174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4233G>A
  hgvsp: ENST00000233072.5:c.4233G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2880G>A
  hgvsp: ENST00000451903.2:c.2880G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3419G>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4251G>A
  hgvsp: ENST00000430249.2:c.4251G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19937
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6011
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39593
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro1417Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

2-211540527-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540527
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540527
    reference: chr 2
allele count: 3
allele frequency: 2.47610558114198e-5
allele num: 121158
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3423C>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4255C>G
  hgvsp: ENSP00000402608.2:p.Gln1419Glu
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4237C>G
  hgvsp: ENSP00000233072.5:p.Gln1413Glu
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2884C>G
  hgvsp: ENSP00000406136.2:p.Gln962Glu
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8459
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39573
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8985
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln1419Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-211540533-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540533
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540533
    reference: chr 2
allele count: 1
allele frequency: 8.254366559910193e-6
allele num: 121148
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4243G>C
  hgvsp: ENSP00000233072.5:p.Gly1415Arg
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4261G>C
  hgvsp: ENSP00000402608.2:p.Gly1421Arg
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2890G>C
  hgvsp: ENSP00000406136.2:p.Gly964Arg
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3429G>C
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8440
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8979
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly1421Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

2-211540541-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540541
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540541
    reference: chr 2
allele count: 84
allele frequency: 6.98358856686786e-4
allele num: 120282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3437T>C
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4251T>C
  hgvsp: ENST00000233072.5:c.4251T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4269T>C
  hgvsp: ENST00000430249.2:c.4269T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2898T>C
  hgvsp: ENST00000451903.2:c.2898T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 3.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 19810
  bin: 2.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8397
  bin: 3.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 20357
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 8636
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 5836
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.5e0
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39246
  bin: 6.25e1
  variant carriers: 5
hgvs: p.Asn1423Asn
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

2-211540542-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540542
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540542
    reference: chr 2
allele count: 1
allele frequency: 8.258456659619451e-6
allele num: 121088
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4270C>G
  hgvsp: ENSP00000402608.2:p.Pro1424Ala
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4252C>G
  hgvsp: ENSP00000233072.5:p.Pro1418Ala
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3438C>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2899C>G
  hgvsp: ENSP00000406136.2:p.Pro967Ala
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20272
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8732
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6043
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro1424Ala
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

2-211540542-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540542
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540542
    reference: chr 2
allele count: 98
allele frequency: 8.093287526427061e-4
allele num: 121088
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3438C>T
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4270C>T
  hgvsp: ENSP00000402608.2:p.Pro1424Ser
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2899C>T
  hgvsp: ENSP00000406136.2:p.Pro967Ser
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4252C>T
  hgvsp: ENSP00000233072.5:p.Pro1418Ser
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 20272
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8567
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2148
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 20323
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1072
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8732
  bin: 9.75e1
  variant carriers: 98
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6043
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro1424Ser
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-211540550-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540550
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540550
    reference: chr 2
allele count: 208
allele frequency: 1.718724177821848e-3
allele num: 121020
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2907C>G
  hgvsp: ENST00000451903.2:c.2907C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4260C>G
  hgvsp: ENST00000233072.5:c.4260C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4278C>G
  hgvsp: ENST00000430249.2:c.4278C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3446C>G
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8555
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 20208
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 8.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 5.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 5.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 6.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20276
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 9.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 4.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6000
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40047
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8761
  bin: 9.75e1
  variant carriers: 203
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu1426Leu
num of homozygotes: 4
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

2-211540557-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540557
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540557
    reference: chr 2
allele count: 1
allele frequency: 8.28225940036442e-6
allele num: 120740
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4267A>G
  hgvsp: ENSP00000233072.5:p.Ile1423Val
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2914A>G
  hgvsp: ENSP00000406136.2:p.Ile972Val
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3453A>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4285A>G
  hgvsp: ENSP00000402608.2:p.Ile1429Val
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8577
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39810
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5958
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile1429Val
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-211540557-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540557
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540557
    reference: chr 2
allele count: 1
allele frequency: 8.28225940036442e-6
allele num: 120740
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4285A>T
  hgvsp: ENSP00000402608.2:p.Ile1429Phe
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2914A>T
  hgvsp: ENSP00000406136.2:p.Ile972Phe
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4267A>T
  hgvsp: ENSP00000233072.5:p.Ile1423Phe
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3453A>T
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8577
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39810
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile1429Phe
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/2-211540563-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540563
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540563
    reference: chr 2
allele count: 1
allele frequency: 8.30137304710199e-6
allele num: 120462
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2920A>C
  hgvsp: ENSP00000406136.2:p.Lys974Gln
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3459A>C
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4291A>C
  hgvsp: ENSP00000402608.2:p.Lys1431Gln
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4273A>C
  hgvsp: ENSP00000233072.5:p.Lys1425Gln
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19936
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1581
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
  all individuals: 972
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8574
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5861
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys1431Gln
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

2-211540566-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540566
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540567
    reference: chr 2
allele count: 1
allele frequency: 8.316284949187499e-6
allele num: 120246
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4274+4dupA
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4292+4dupA
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3460+4dupA
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2921+4dupA
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19766
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8342
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5744
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39115
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 7.25e1
  variant carriers: 0
hgvs: c.4292+4dupA
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD

2-211540567-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540567
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540567
    reference: chr 2
allele count: 2
allele frequency: 1.664863065012903e-5
allele num: 120130
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3460+3A>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4292+3A>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2921+3A>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4274+3A>G
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5723
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38962
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8573
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 8.25e1
  variant carriers: 0
hgvs: c.4292+3A>G
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/2-211540572-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540572
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540572
    reference: chr 2
allele count: 1
allele frequency: 8.374928813105088e-6
allele num: 119404
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4292+8C>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3460+8C>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4274+8C>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2921+8C>A
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7994
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8573
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5449
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
hgvs: c.4292+8C>A
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

2-211540575-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540575
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540575
    reference: chr 2
allele count: 1
allele frequency: 8.3948959032908e-6
allele num: 119120
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4274+11G>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4292+11G>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2921+11G>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3460+11G>A
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2720
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36788
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1019
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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
  all individuals: 1510
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
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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: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

2-211540578-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540578
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540578
    reference: chr 2
allele count: 1
allele frequency: 8.431845393682861e-6
allele num: 118598
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3460+14A>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2921+14A>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4292+14A>G
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4274+14A>G
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7467
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3606
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35316
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5266
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

2-211540580-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540580
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540580
    reference: chr 2
allele count: 11
allele frequency: 9.300595238095238e-5
allele num: 118272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4274+16A>T
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4292+16A>T
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2921+16A>T
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3460+16A>T
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17763
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7205
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34291
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8581
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 5099
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4113
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

2-211540604-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 211540604
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 211540604
    reference: chr 2
allele count: 7
allele frequency: 6.132926807899209e-5
allele num: 114138
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000406136
  ensembl transcript: ENST00000451903
  gene symbol: CPS1
  hgvsc: ENST00000451903.2:c.2921+40G>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl transcript: ENST00000479988
  gene symbol: CPS1
  hgvsc: ENST00000479988.1:n.3460+40G>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000402608
  ensembl transcript: ENST00000430249
  gene symbol: CPS1
  hgvsc: ENST00000430249.2:c.4292+40G>A
  variant of: http://identifiers.org/hgnc/2323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000021826
  ensembl protein: ENSP00000233072
  ensembl transcript: ENST00000233072
  gene symbol: CPS1
  hgvsc: ENST00000233072.5:c.4274+40G>A
  variant of: http://identifiers.org/hgnc/2323
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11444
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2955
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8082
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7040
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3337
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3192
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2847
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6366
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6324
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8566
  bin: 9.75e1
  variant carriers: 7
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.668401e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

QD
type: SiteQuality
SIO_000300: 1.34e1

MQRankSum
type: SiteQuality
SIO_000300: 2.21e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.528e-1

FS
type: SiteQuality
SIO_000300: 5.564e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.81e-1

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.154e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.002e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

VQSLOD
type: SiteQuality
SIO_000300: 6.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.668404e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.033e0

GenotypeQuality
all individuals: 2392
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.912e1

MQRankSum
type: SiteQuality
SIO_000300: -8.68e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.315e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.742e0

DP
type: SiteQuality
SIO_000300: 1.668433e6

VQSLOD
type: SiteQuality
SIO_000300: -1.485e0

FS
type: SiteQuality
SIO_000300: 4.132e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e0

QD
type: SiteQuality
SIO_000300: 8.91e0

GenotypeQuality
all individuals: 37328
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.75e-1

FS
type: SiteQuality
SIO_000300: 8.44e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.784e0

DP
type: SiteQuality
SIO_000300: 1.668221e6

QD
type: SiteQuality
SIO_000300: 1.295e1

GenotypeQuality
all individuals: 2728
bin: 7.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -2.431e-1

QD
type: SiteQuality
SIO_000300: 9.24e0

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.5e-2

DP
type: SiteQuality
SIO_000300: 1.668159e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.235e0

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

Latino
type: Population
allele count: 3
allele frequency: 2.59920291110726e-4
allele num: 11542
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.153e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -9.88e-2

QD
type: SiteQuality
SIO_000300: 1.056e1

MQRankSum
type: SiteQuality
SIO_000300: -1.2e-2

FS
type: SiteQuality
SIO_000300: 6.74e-1

MQ
type: SiteQuality
SIO_000300: 5.886e1

DP
type: SiteQuality
SIO_000300: 1.668065e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.667916e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.57e-1

FS
type: SiteQuality
SIO_000300: 3.171e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.59e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

VQSLOD
type: SiteQuality
SIO_000300: -2.522e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e-1

QD
type: SiteQuality
SIO_000300: 8.710000000000001e0

GenotypeQuality
all individuals: 2388
bin: 7.25e1
variant carriers: 0

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

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

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

South Asian
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allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.379e0

FS
type: SiteQuality
SIO_000300: 1.929e0

DP
type: SiteQuality
SIO_000300: 1.667984e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

VQSLOD
type: SiteQuality
SIO_000300: -4.646e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.14e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

QD
type: SiteQuality
SIO_000300: 9.6e0

GenotypeQuality
all individuals: 70
bin: 3.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.498830304120928e-5
allele num: 66684
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.668145e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.178e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

FS
type: SiteQuality
SIO_000300: 4.334e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.36e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.343e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 1.668009e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.575e0

FS
type: SiteQuality
SIO_000300: 1.2678e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.555e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.18e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

MQRankSum
type: SiteQuality
SIO_000300: 2.28e-1

QD
type: SiteQuality
SIO_000300: 1.763e1

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 7.08e-1

MQ
type: SiteQuality
SIO_000300: 5.873e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

DP
type: SiteQuality
SIO_000300: 1.668216e6

QD
type: SiteQuality
SIO_000300: 9.449999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -8.080000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
all individuals: 2386
bin: 7.25e1
variant carriers: 0

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

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

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

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

East Asian
type: Population
allele count: 3
allele frequency: 3.469010175763182e-4
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -6.179e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
SIO_000300: 1.463e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

DP
type: SiteQuality
SIO_000300: 1.669209e6

MQRankSum
type: SiteQuality
SIO_000300: -5.28e-1

FS
type: SiteQuality
SIO_000300: 9.451000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.241396025206011e-4
allele num: 16504
num of homozygotes: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.52e0

DP
type: SiteQuality
SIO_000300: 1.669385e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

QD
type: SiteQuality
SIO_000300: 1.536e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
all individuals: 2734
bin: 7.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.52e-1

MQ
type: SiteQuality
SIO_000300: 5.884e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 1.669283e6

QD
type: SiteQuality
SIO_000300: 1.117e1

GenotypeQuality
all individuals: 30637
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2481
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6948
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501726986033939e-5
allele num: 66590
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.891966e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: 7.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.5e-1

FS
type: SiteQuality
SIO_000300: 3.0e0

QD
type: SiteQuality
SIO_000300: 1.692e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 3.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66572
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.68e-1

FS
type: SiteQuality
SIO_000300: 3.882e0

DP
type: SiteQuality
SIO_000300: 2.892521e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.336e0

VQSLOD
type: SiteQuality
SIO_000300: -2.362e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.272e0

QD
type: SiteQuality
SIO_000300: 1.543e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502358703163967e-5
allele num: 66562
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.25e1

MQRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.719e0

VQSLOD
type: SiteQuality
SIO_000300: 8.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 2.222e0

DP
type: SiteQuality
SIO_000300: 2.894983e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.76e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66632
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.39e-1

QD
type: SiteQuality
SIO_000300: 1.447e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.25e0

VQSLOD
type: SiteQuality
SIO_000300: 2.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

DP
type: SiteQuality
SIO_000300: 2.896958e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

QD
type: SiteQuality
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.59e-1

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

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.718e0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 2.899771e6

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: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499970000599988e-5
allele num: 66668
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.47e-1

DP
type: SiteQuality
SIO_000300: 2.90051e6

QD
type: SiteQuality
SIO_000300: 7.84e0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
all individuals: 2312
bin: 8.75e1
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GenotypeQuality
all individuals: 4103
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e0

VQSLOD
type: SiteQuality
SIO_000300: -8.210000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.356e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 6.065e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.264e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-1

DP
type: SiteQuality
SIO_000300: 2.90086e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

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

GenotypeQuality
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GenotypeQuality
all individuals: 4234
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variant carriers: 0

GenotypeQuality
all individuals: 3912
bin: 9.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.882952142994427e-4
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.99805126667666e-5
allele num: 66710
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.82e-1

DP
type: SiteQuality
SIO_000300: 2.901858e6

MQ
type: SiteQuality
SIO_000300: 5.919e1

QD
type: SiteQuality
SIO_000300: 1.222e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.23e-1

GenotypeQuality
all individuals: 2469
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4234
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8419
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2310
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997961386257345e-5
allele num: 66712
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-1

DP
type: SiteQuality
SIO_000300: 2.90157e6

VQSLOD
type: SiteQuality
SIO_000300: 8.24e-1

FS
type: SiteQuality
SIO_000300: 5.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQRankSum
type: SiteQuality
SIO_000300: -1.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.85e-1

QD
type: SiteQuality
SIO_000300: 1.119e1

GenotypeQuality
all individuals: 31032
bin: 9.75e1
variant carriers: 1406

GenotypeQuality
all individuals: 4177
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variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4497
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variant carriers: 0

African
type: Population
allele count: 26
allele frequency: 2.499038831218762e-3
allele num: 10404
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

Other
type: Population
allele count: 12
allele frequency: 1.3215859030837e-2
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 189
allele frequency: 2.858439201451906e-2
allele num: 6612
num of homozygotes: 5

European (Non-Finnish)
type: Population
allele count: 1028
allele frequency: 1.541090756453692e-2
allele num: 66706
num of homozygotes: 12

South Asian
type: Population
allele count: 66
allele frequency: 3.997577225923683e-3
allele num: 16510
num of homozygotes: 1

Latino
type: Population
allele count: 107
allele frequency: 9.281748785565579e-3
allele num: 11528
num of homozygotes: 4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.375e0

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

DP
type: SiteQuality
SIO_000300: 2.99721e6

QD
type: SiteQuality
SIO_000300: 1.31e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.18e-2

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 6.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.76e-1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2482
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GenotypeQuality
all individuals: 2335
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.556e0

MQRankSum
type: SiteQuality
SIO_000300: 8.06e-1

QD
type: SiteQuality
SIO_000300: 1.029e1

FS
type: SiteQuality
SIO_000300: 5.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.167e0

DP
type: SiteQuality
SIO_000300: 2.90091e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.23e-1

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 4612
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-2

MQ
type: SiteQuality
SIO_000300: 5.982e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.3e-1

FS
type: SiteQuality
SIO_000300: 6.552e0

QD
type: SiteQuality
SIO_000300: 1.001e1

DP
type: SiteQuality
SIO_000300: 2.900855e6

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 30366
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2482
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2335
bin: 8.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.004e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.467e0

MQRankSum
type: SiteQuality
SIO_000300: -1.696e0

VQSLOD
type: SiteQuality
SIO_000300: -7.256e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.843e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

QD
type: SiteQuality
SIO_000300: 1.014e1

DP
type: SiteQuality
SIO_000300: 2.900853e6

GenotypeQuality
all individuals: 3931
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2335
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.900719e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.504e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.648e0

QD
type: SiteQuality
SIO_000300: 1.286e1

MQRankSum
type: SiteQuality
SIO_000300: -4.86e-1

FS
type: SiteQuality
SIO_000300: 6.338e0

VQSLOD
type: SiteQuality
SIO_000300: 5.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

GenotypeQuality
all individuals: 4131
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30366
bin: 9.75e1
variant carriers: 2

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

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

African
type: Population
allele count: 2
allele frequency: 1.922337562475971e-4
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.664e0

QD
type: SiteQuality
SIO_000300: 1.314e1

DP
type: SiteQuality
SIO_000300: 2.900743e6

VQSLOD
type: SiteQuality
SIO_000300: 2.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.92e-1

GenotypeQuality
all individuals: 4131
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2481
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.601908065915004e-4
allele num: 11530
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999220202747286e-5
allele num: 66684
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.145e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-2

MQ
type: SiteQuality
SIO_000300: 5.969e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.25e0

DP
type: SiteQuality
SIO_000300: 2.900581e6

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 8459
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variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.31e-1

QD
type: SiteQuality
SIO_000300: 1.452e1

FS
type: SiteQuality
SIO_000300: 4.178e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.900243e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.62e-1

GenotypeQuality
all individuals: 4609
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30364
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variant carriers: 1

GenotypeQuality
all individuals: 4131
bin: 8.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499700059988002e-5
allele num: 66680
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 9.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.900174e6

VQSLOD
type: SiteQuality
SIO_000300: -1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.485e0

MQRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.891e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.81e-1

QD
type: SiteQuality
SIO_000300: 1.333e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66670
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.89e-1

DP
type: SiteQuality
SIO_000300: 2.899448e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.82e0

MQ
type: SiteQuality
SIO_000300: 4.718e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.409e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.772e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.627487274409995e-4
allele num: 8644
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.549e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e-1

DP
type: SiteQuality
SIO_000300: 2.893313e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

DP
type: SiteQuality
SIO_000300: 2.890608e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.92e-1

FS
type: SiteQuality
SIO_000300: 2.364e0

QD
type: SiteQuality
SIO_000300: 1.418e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.37e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 90
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66630
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.904e0

MQRankSum
type: SiteQuality
SIO_000300: -1.458e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.532e0

MQ
type: SiteQuality
SIO_000300: 5.823e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e-1

DP
type: SiteQuality
SIO_000300: 2.889646e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.492e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501681883709755e-5
allele num: 66592
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.066e0

QD
type: SiteQuality
SIO_000300: 1.173e1

FS
type: SiteQuality
SIO_000300: 9.834e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.693e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.75e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.81e-1

DP
type: SiteQuality
SIO_000300: 2.877567e6

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 2379
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variant carriers: 0

GenotypeQuality
all individuals: 2317
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501636784094663e-5
allele num: 66594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.799999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.106e0

QD
type: SiteQuality
SIO_000300: 1.194e1

MQRankSum
type: SiteQuality
SIO_000300: -1.087e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

DP
type: SiteQuality
SIO_000300: 2.87595e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4314
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60130
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6158
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9126
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10186
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.593817e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

QD
type: SiteQuality
SIO_000300: 1.561e1

VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

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: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60092
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6158
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7584
num of homozygotes: 0

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

South Asian
type: Population
allele count: 10
allele frequency: 6.565126050420169e-4
allele num: 15232
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

FS
type: SiteQuality
SIO_000300: 9.16e-1

MQ
type: SiteQuality
SIO_000300: 5.907e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

QD
type: SiteQuality
SIO_000300: 1.47e1

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.03e0

DP
type: SiteQuality
SIO_000300: 1.597739e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 27
allele frequency: 4.384540435206236e-3
allele num: 6158
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7584
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.328230047260866e-5
allele num: 60092
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15232
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e-1

QD
type: SiteQuality
SIO_000300: 1.47e1

DP
type: SiteQuality
SIO_000300: 1.597739e6

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

FS
type: SiteQuality
SIO_000300: 9.16e-1

MQ
type: SiteQuality
SIO_000300: 5.907e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6172
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 15274
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9162
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.658649859014762e-5
allele num: 60290
num of homozygotes: 0

Other
type: Population
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allele num: 824
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.96e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -9.19e-1

DP
type: SiteQuality
SIO_000300: 1.625568e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.84e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6200
num of homozygotes: 0

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: 60630
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.303950971443474e-4
allele num: 15338
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7682
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African
type: Population
allele count: 1
allele frequency: 1.085540599218411e-4
allele num: 9212
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

QD
type: SiteQuality
SIO_000300: 1.213e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.01e-1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

FS
type: SiteQuality
SIO_000300: 4.335e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.01e-1

DP
type: SiteQuality
SIO_000300: 1.683435e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 6

European (Non-Finnish)
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allele count: 5
allele frequency: 8.113458605134196e-5
allele num: 61626
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7854
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South Asian
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allele count: 1
allele frequency: 6.474168069403081e-5
allele num: 15446
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10470
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9350
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6254
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.1741e1

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

QD
type: SiteQuality
SIO_000300: 1.184e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.461e0

MQRankSum
type: SiteQuality
SIO_000300: -6.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-2

DP
type: SiteQuality
SIO_000300: 1.755862e6

GenotypeQuality
all individuals: 1863
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4514
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.233420635690497e-5
allele num: 61854
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.27000254000508e-4
allele num: 7874
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6256
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.458279514337381e-5
allele num: 15484
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.24e-1

FS
type: SiteQuality
SIO_000300: 3.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.878e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.48e0

QD
type: SiteQuality
SIO_000300: 2.319e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.48e-1

DP
type: SiteQuality
SIO_000300: 1.766558e6

GenotypeQuality
all individuals: 445
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1735
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10640
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7984
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.6022046335758e-5
allele num: 62414
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

DP
type: SiteQuality
SIO_000300: 1.785931e6

VQSLOD
type: SiteQuality
SIO_000300: 5.52e-1

FS
type: SiteQuality
SIO_000300: 3.038e0

QD
type: SiteQuality
SIO_000300: 1.073e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.62e0

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

GenotypeQuality
all individuals: 1425
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 878
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.593676292471473e-5
allele num: 62748
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15612
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6302
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10724
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8058
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.818e1

VQSLOD
type: SiteQuality
SIO_000300: -2.538e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e0

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.41e-1

DP
type: SiteQuality
SIO_000300: 1.796297e6

QD
type: SiteQuality
SIO_000300: 2.662e1

GenotypeQuality
all individuals: 9698
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2248
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1817
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9954
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16088
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.531675039823551e-5
allele num: 65288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11196
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.18e-2

MQ
type: SiteQuality
SIO_000300: 5.94e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.88e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.866476e6

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.26e-1

QD
type: SiteQuality
SIO_000300: 1.856e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.04e0

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2360
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66378
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.945903872348706e-4
allele num: 10278
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.113e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.173e0

FS
type: SiteQuality
SIO_000300: 2.472e0

DP
type: SiteQuality
SIO_000300: 1.896667e6

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

QD
type: SiteQuality
SIO_000300: 1.299e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 9766
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 1018
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.722958827634333e-5
allele num: 11464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.052631578947368e-4
allele num: 66500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.69e-1

QD
type: SiteQuality
SIO_000300: 1.199e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.09e0

FS
type: SiteQuality
SIO_000300: 8.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.902659e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.26e0

GenotypeQuality
all individuals: 9798
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5714
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.908198e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 2.19e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.244e0

QD
type: SiteQuality
SIO_000300: 8.619999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.612e0

GenotypeQuality
all individuals: 793
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1026
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9817
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 9.98e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 1.910969e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.432e0

VQSLOD
type: SiteQuality
SIO_000300: 7.01e-1

GenotypeQuality
all individuals: 2447
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1750
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5737
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.633911368015414e-5
allele num: 10380
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.962e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 1.910969e6

VQSLOD
type: SiteQuality
SIO_000300: 7.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.432e0

MQRankSum
type: SiteQuality
SIO_000300: 3.75e-1

QD
type: SiteQuality
SIO_000300: 9.98e0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5731
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001741009785676e-5
allele num: 66628
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 2.596e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.321e1

MQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.074e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e-1

DP
type: SiteQuality
SIO_000300: 1.911308e6

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

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

GenotypeQuality
all individuals: 1751
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1954
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.76e0

MQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

VQSLOD
type: SiteQuality
SIO_000300: -9.635e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.64e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.8e-1

DP
type: SiteQuality
SIO_000300: 1.911633e6

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 18

GenotypeQuality
all individuals: 741
bin: 7.25e1
variant carriers: 66

GenotypeQuality
all individuals: 808
bin: 7.75e1
variant carriers: 83

GenotypeQuality
all individuals: 282
bin: 8.75e1
variant carriers: 75

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 34

Latino
type: Population
allele count: 3475
allele frequency: 3.016493055555556e-1
allele num: 11520
num of homozygotes: 511

East Asian
type: Population
allele count: 1447
allele frequency: 1.673606291926903e-1
allele num: 8646
num of homozygotes: 118

African
type: Population
allele count: 3867
allele frequency: 3.722564497497112e-1
allele num: 10388
num of homozygotes: 724

European (Non-Finnish)
type: Population
allele count: 20639
allele frequency: 3.097088835534214e-1
allele num: 66640
num of homozygotes: 3187

Other
type: Population
allele count: 286
allele frequency: 3.149779735682819e-1
allele num: 908
num of homozygotes: 44

South Asian
type: Population
allele count: 4872
allele frequency: 2.951653944020356e-1
allele num: 16506
num of homozygotes: 766

European (Finnish)
type: Population
allele count: 2186
allele frequency: 3.314129775621589e-1
allele num: 6596
num of homozygotes: 342

BaseQRankSum
type: SiteQuality
SIO_000300: -1.891e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.25e-2

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 6.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

QD
type: SiteQuality
SIO_000300: 1.518e1

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

DP
type: SiteQuality
SIO_000300: 3.409975e6

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

GenotypeQuality
all individuals: 697
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1126
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.0016509079994e-5
allele num: 66630
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.791e0

QD
type: SiteQuality
SIO_000300: 1.245e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.87e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.404e0

FS
type: SiteQuality
SIO_000300: 1.2253e1

DP
type: SiteQuality
SIO_000300: 1.989418e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

GenotypeQuality
all individuals: 8990
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1498
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1692
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002011347602894e-5
allele num: 66622
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.537e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.15e-1

DP
type: SiteQuality
SIO_000300: 1.98825e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.027e0

FS
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.836e1

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 694
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6005
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66612
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.075e0

DP
type: SiteQuality
SIO_000300: 1.987496e6

FS
type: SiteQuality
SIO_000300: 5.52e-1

QD
type: SiteQuality
SIO_000300: 1.837e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 39725
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5998
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1112
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-2

FS
type: SiteQuality
SIO_000300: 8.388e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.944e1

QD
type: SiteQuality
SIO_000300: 2.146e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.231e0

VQSLOD
type: SiteQuality
SIO_000300: -1.578e0

DP
type: SiteQuality
SIO_000300: 1.986677e6

GenotypeQuality
all individuals: 196
bin: 5.75e1
variant carriers: 6

GenotypeQuality
all individuals: 656
bin: 9.25e1
variant carriers: 3

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

GenotypeQuality
all individuals: 142
bin: 3.25e1
variant carriers: 7

African
type: Population
allele count: 9
allele frequency: 8.773640085786703e-4
allele num: 10258
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.743375174337517e-4
allele num: 11472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 46
allele frequency: 6.949690285541622e-4
allele num: 66190
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.247191011235955e-3
allele num: 890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 25
allele frequency: 3.924646781789639e-3
allele num: 6370
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.19568e2

VQSLOD
type: SiteQuality
SIO_000300: -6.783e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.728e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.26e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 1.993207e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.234e0

QD
type: SiteQuality
SIO_000300: 5.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.35e0

GenotypeQuality
all individuals: 1472
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40087
bin: 6.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501817198810561e-5
allele num: 66586
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.516e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 1.979864e6

VQSLOD
type: SiteQuality
SIO_000300: 3.39e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.086e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.74e-1

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

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 40087
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 2.892402622445044e-4
allele num: 10372
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 3
allele frequency: 2.607335303320007e-4
allele num: 11506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 87
allele frequency: 1.306580962965188e-3
allele num: 66586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.067961165048543e-4
allele num: 6592
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.516e0

VQSLOD
type: SiteQuality
SIO_000300: 3.39e0

DP
type: SiteQuality
SIO_000300: 1.979864e6

QD
type: SiteQuality
SIO_000300: 1.086e1

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.97e-1

FS
type: SiteQuality
SIO_000300: 6.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.74e-1

GenotypeQuality
all individuals: 438
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 197
allele frequency: 1.900810497877268e-2
allele num: 10364
num of homozygotes: 4

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.516990291262136e-4
allele num: 6592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.507211538461539e-5
allele num: 66560
num of homozygotes: 0

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

Latino
type: Population
allele count: 7
allele frequency: 6.093314763231198e-4
allele num: 11488
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.464e1

DP
type: SiteQuality
SIO_000300: 1.979022e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.01e-2

FS
type: SiteQuality
SIO_000300: 6.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.431e0

VQSLOD
type: SiteQuality
SIO_000300: 4.54e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.08e-1

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1596
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.092360180333861e-5
allele num: 16414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66440
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.31e0

VQSLOD
type: SiteQuality
SIO_000300: -6.267e-1

DP
type: SiteQuality
SIO_000300: 1.965563e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e0

MQRankSum
type: SiteQuality
SIO_000300: -5.56e-1

FS
type: SiteQuality
SIO_000300: 1.529e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

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

GenotypeQuality
all individuals: 5958
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 2.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66440
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.092360180333861e-5
allele num: 16414
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 1.965563e6

QD
type: SiteQuality
SIO_000300: 8.31e0

FS
type: SiteQuality
SIO_000300: 1.529e0

MQRankSum
type: SiteQuality
SIO_000300: -5.56e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.267e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 172
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39492
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1036
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66306
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

QD
type: SiteQuality
SIO_000300: 1.379e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 2.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

DP
type: SiteQuality
SIO_000300: 1.958113e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e-1

GenotypeQuality
all individuals: 244
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8572
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1567
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510984859931704e-5
allele num: 66182
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16344
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 7.11e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 1.951593e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.193e1

GenotypeQuality
all individuals: 51
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1567
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.025077895755816e-5
allele num: 66114
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

FS
type: SiteQuality
SIO_000300: 4.436e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

DP
type: SiteQuality
SIO_000300: 1.948753e6

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 1.591e1

GenotypeQuality
all individuals: 1525
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37343
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1027
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.880994671403197e-5
allele num: 11260
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65692
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10188
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.9e0

DP
type: SiteQuality
SIO_000300: 1.924698e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 7.3e-1

MQ
type: SiteQuality
SIO_000300: 5.815e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.659e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

QD
type: SiteQuality
SIO_000300: 1.777e1

GenotypeQuality
all individuals: 155
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8572
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 1
allele frequency: 8.906305664410402e-5
allele num: 11228
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16242
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65526
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.112e0

QD
type: SiteQuality
SIO_000300: 2.077e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.015e0

DP
type: SiteQuality
SIO_000300: 1.91329e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.44e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.473e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -9.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.015e0

GenotypeQuality
all individuals: 666
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8572
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 419
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16192
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10100
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.954154727793696e-5
allele num: 11168
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.885e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e0

VQSLOD
type: SiteQuality
SIO_000300: -9.612000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.890285e6

GenotypeQuality
all individuals: 1310
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10076
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.691006917755573e-4
allele num: 65050
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16170
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

MQRankSum
type: SiteQuality
SIO_000300: -1.42e-1

QD
type: SiteQuality
SIO_000300: 1.446e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.12e-1

FS
type: SiteQuality
SIO_000300: 3.399e0

DP
type: SiteQuality
SIO_000300: 1.875016e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-2

GenotypeQuality
all individuals: 632
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12023
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1027
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.726003490401396e-4
allele num: 8022
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9702
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62694
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10686
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15812
num of homozygotes: 0