2-55277442-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55277442
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55277442
    reference: chr 2
allele count: 1
allele frequency: 1.341381623071764e-5
allele num: 74550
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000378109
  ensembl transcript: ENST00000394611
  gene symbol: RTN4
  hgvsc: ENST00000394611.2:c.-63+122C>G
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000337838
  ensembl transcript: ENST00000337526
  gene symbol: RTN4
  hgvsc: ENST00000337526.6:c.-6C>G
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000384825
  ensembl transcript: ENST00000402434
  gene symbol: RTN4
  hgvsc: ENST00000402434.2:c.-6C>G
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000350365
  ensembl transcript: ENST00000357732
  gene symbol: RTN4
  hgvsc: ENST00000357732.4:c.-6C>G
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000385650
  ensembl transcript: ENST00000404909
  gene symbol: RTN4
  hgvsc: ENST00000404909.1:c.-63+411C>G
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000322147
  ensembl transcript: ENST00000317610
  gene symbol: RTN4
  hgvsc: ENST00000317610.7:c.-6C>G
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000411628
  ensembl transcript: ENST00000427710
  gene symbol: RTN4
  hgvsc: ENST00000427710.1:c.-62-22086C>G
  variant of: http://identifiers.org/hgnc/14085
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 833
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

2-55277444-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55277444
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55277444
    reference: chr 2
allele count: 23
allele frequency: 3.128826010066658e-4
allele num: 73510
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000350365
  ensembl transcript: ENST00000357732
  gene symbol: RTN4
  hgvsc: ENST00000357732.4:c.-8C>G
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000322147
  ensembl transcript: ENST00000317610
  gene symbol: RTN4
  hgvsc: ENST00000317610.7:c.-8C>G
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000337838
  ensembl transcript: ENST00000337526
  gene symbol: RTN4
  hgvsc: ENST00000337526.6:c.-8C>G
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000378109
  ensembl transcript: ENST00000394611
  gene symbol: RTN4
  hgvsc: ENST00000394611.2:c.-63+120C>G
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000385650
  ensembl transcript: ENST00000404909
  gene symbol: RTN4
  hgvsc: ENST00000404909.1:c.-63+409C>G
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000384825
  ensembl transcript: ENST00000402434
  gene symbol: RTN4
  hgvsc: ENST00000402434.2:c.-8C>G
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000411628
  ensembl transcript: ENST00000427710
  gene symbol: RTN4
  hgvsc: ENST00000427710.1:c.-62-22088C>G
  variant of: http://identifiers.org/hgnc/14085
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 9
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 188
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

2-55277446-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55277446
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55277446
    reference: chr 2
allele count: 1
allele frequency: 1.367652288082278e-5
allele num: 73118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000411628
  ensembl transcript: ENST00000427710
  gene symbol: RTN4
  hgvsc: ENST00000427710.1:c.-62-22090C>T
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000378109
  ensembl transcript: ENST00000394611
  gene symbol: RTN4
  hgvsc: ENST00000394611.2:c.-63+118C>T
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000350365
  ensembl transcript: ENST00000357732
  gene symbol: RTN4
  hgvsc: ENST00000357732.4:c.-10C>T
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000337838
  ensembl transcript: ENST00000337526
  gene symbol: RTN4
  hgvsc: ENST00000337526.6:c.-10C>T
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000322147
  ensembl transcript: ENST00000317610
  gene symbol: RTN4
  hgvsc: ENST00000317610.7:c.-10C>T
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000385650
  ensembl transcript: ENST00000404909
  gene symbol: RTN4
  hgvsc: ENST00000404909.1:c.-63+407C>T
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000384825
  ensembl transcript: ENST00000402434
  gene symbol: RTN4
  hgvsc: ENST00000402434.2:c.-10C>T
  variant of: http://identifiers.org/hgnc/14085
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8824
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 873
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

2-55277449-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55277449
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55277449
    reference: chr 2
allele count: 6
allele frequency: 8.399126490844952e-5
allele num: 71436
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000350365
  ensembl transcript: ENST00000357732
  gene symbol: RTN4
  hgvsc: ENST00000357732.4:c.-13C>A
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000337838
  ensembl transcript: ENST00000337526
  gene symbol: RTN4
  hgvsc: ENST00000337526.6:c.-13C>A
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000385650
  ensembl transcript: ENST00000404909
  gene symbol: RTN4
  hgvsc: ENST00000404909.1:c.-63+404C>A
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000322147
  ensembl transcript: ENST00000317610
  gene symbol: RTN4
  hgvsc: ENST00000317610.7:c.-13C>A
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000378109
  ensembl transcript: ENST00000394611
  gene symbol: RTN4
  hgvsc: ENST00000394611.2:c.-63+115C>A
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000384825
  ensembl transcript: ENST00000402434
  gene symbol: RTN4
  hgvsc: ENST00000402434.2:c.-13C>A
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000411628
  ensembl transcript: ENST00000427710
  gene symbol: RTN4
  hgvsc: ENST00000427710.1:c.-62-22093C>A
  variant of: http://identifiers.org/hgnc/14085
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD

2-55277450-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55277450
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55277450
    reference: chr 2
allele count: 4
allele frequency: 5.638249887235002e-5
allele num: 70944
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000385650
  ensembl transcript: ENST00000404909
  gene symbol: RTN4
  hgvsc: ENST00000404909.1:c.-63+403T>C
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000384825
  ensembl transcript: ENST00000402434
  gene symbol: RTN4
  hgvsc: ENST00000402434.2:c.-14T>C
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000322147
  ensembl transcript: ENST00000317610
  gene symbol: RTN4
  hgvsc: ENST00000317610.7:c.-14T>C
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000350365
  ensembl transcript: ENST00000357732
  gene symbol: RTN4
  hgvsc: ENST00000357732.4:c.-14T>C
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000411628
  ensembl transcript: ENST00000427710
  gene symbol: RTN4
  hgvsc: ENST00000427710.1:c.-62-22094T>C
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000378109
  ensembl transcript: ENST00000394611
  gene symbol: RTN4
  hgvsc: ENST00000394611.2:c.-63+114T>C
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000337838
  ensembl transcript: ENST00000337526
  gene symbol: RTN4
  hgvsc: ENST00000337526.6:c.-14T>C
  variant of: http://identifiers.org/hgnc/14085
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2789
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6076
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14971
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9347
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10137
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

2-55277455-A-ATGCTGCAGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55277455
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55277464
    reference: chr 2
allele count: 1
allele frequency: 1.461945557147452e-5
allele num: 68402
alternate allele: ATGCTGCAGC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000385650
  ensembl transcript: ENST00000404909
  gene symbol: RTN4
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000350365
  ensembl transcript: ENST00000357732
  gene symbol: RTN4
  hgvsc: ENST00000357732.4:c.-28_-20dupGCTGCAGCA
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000337838
  ensembl transcript: ENST00000337526
  gene symbol: RTN4
  hgvsc: ENST00000337526.6:c.-28_-20dupGCTGCAGCA
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000384825
  ensembl transcript: ENST00000402434
  gene symbol: RTN4
  hgvsc: ENST00000402434.2:c.-28_-20dupGCTGCAGCA
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000322147
  ensembl transcript: ENST00000317610
  gene symbol: RTN4
  hgvsc: ENST00000317610.7:c.-28_-20dupGCTGCAGCA
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000378109
  ensembl transcript: ENST00000394611
  gene symbol: RTN4
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000411628
  ensembl transcript: ENST00000427710
  gene symbol: RTN4
  variant of: http://identifiers.org/hgnc/14085
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9911
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3555
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12846
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3496
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20364
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-55277455-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55277455
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55277455
    reference: chr 2
allele count: 1
allele frequency: 1.461945557147452e-5
allele num: 68402
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000337838
  ensembl transcript: ENST00000337526
  gene symbol: RTN4
  hgvsc: ENST00000337526.6:c.-19T>G
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000322147
  ensembl transcript: ENST00000317610
  gene symbol: RTN4
  hgvsc: ENST00000317610.7:c.-19T>G
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000384825
  ensembl transcript: ENST00000402434
  gene symbol: RTN4
  hgvsc: ENST00000402434.2:c.-19T>G
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000350365
  ensembl transcript: ENST00000357732
  gene symbol: RTN4
  hgvsc: ENST00000357732.4:c.-19T>G
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000411628
  ensembl transcript: ENST00000427710
  gene symbol: RTN4
  hgvsc: ENST00000427710.1:c.-62-22099T>G
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000385650
  ensembl transcript: ENST00000404909
  gene symbol: RTN4
  hgvsc: ENST00000404909.1:c.-63+398T>G
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000378109
  ensembl transcript: ENST00000394611
  gene symbol: RTN4
  hgvsc: ENST00000394611.2:c.-63+109T>G
  variant of: http://identifiers.org/hgnc/14085
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9911
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3555
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8950
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15842
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5367
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3496
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1378
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20364
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

2-55277459-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55277459
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55277458
    reference: chr 2
allele count: 1
allele frequency: 1.589724023909449e-5
allele num: 62904
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000350365
  ensembl transcript: ENST00000357732
  gene symbol: RTN4
  hgvsc: ENST00000357732.4:c.-24delC
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000378109
  ensembl transcript: ENST00000394611
  gene symbol: RTN4
  hgvsc: ENST00000394611.2:c.-63+104delC
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000384825
  ensembl transcript: ENST00000402434
  gene symbol: RTN4
  hgvsc: ENST00000402434.2:c.-24delC
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000322147
  ensembl transcript: ENST00000317610
  gene symbol: RTN4
  hgvsc: ENST00000317610.7:c.-24delC
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000337838
  ensembl transcript: ENST00000337526
  gene symbol: RTN4
  hgvsc: ENST00000337526.6:c.-24delC
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000411628
  ensembl transcript: ENST00000427710
  gene symbol: RTN4
  hgvsc: ENST00000427710.1:c.-62-22104delC
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000385650
  ensembl transcript: ENST00000404909
  gene symbol: RTN4
  hgvsc: ENST00000404909.1:c.-63+393delC
  variant of: http://identifiers.org/hgnc/14085
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 4372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10771
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13721
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15911
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9418
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: TG
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

2-55277462-A-AGCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55277462
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55277465
    reference: chr 2
allele count: 1
allele frequency: 1.61404867970818e-5
allele num: 61956
alternate allele: AGCT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000378109
  ensembl transcript: ENST00000394611
  gene symbol: RTN4
  hgvsc: ENST00000394611.2:c.-63+99_-63+101dupAGC
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000337838
  ensembl transcript: ENST00000337526
  gene symbol: RTN4
  hgvsc: ENST00000337526.6:c.-29_-27dupAGC
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000350365
  ensembl transcript: ENST00000357732
  gene symbol: RTN4
  hgvsc: ENST00000357732.4:c.-29_-27dupAGC
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000384825
  ensembl transcript: ENST00000402434
  gene symbol: RTN4
  hgvsc: ENST00000402434.2:c.-29_-27dupAGC
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000385650
  ensembl transcript: ENST00000404909
  gene symbol: RTN4
  hgvsc: ENST00000404909.1:c.-63+388_-63+390dupAGC
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000322147
  ensembl transcript: ENST00000317610
  gene symbol: RTN4
  hgvsc: ENST00000317610.7:c.-29_-27dupAGC
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000411628
  ensembl transcript: ENST00000427710
  gene symbol: RTN4
  hgvsc: ENST00000427710.1:c.-62-22109_-62-22107dupAGC
  variant of: http://identifiers.org/hgnc/14085
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4690
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10978
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13842
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9215
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3952
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18780
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

2-55277464-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55277464
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55277464
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 59642
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000322147
  ensembl transcript: ENST00000317610
  gene symbol: RTN4
  hgvsc: ENST00000317610.7:c.-28G>C
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000384825
  ensembl transcript: ENST00000402434
  gene symbol: RTN4
  hgvsc: ENST00000402434.2:c.-28G>C
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000385650
  ensembl transcript: ENST00000404909
  gene symbol: RTN4
  hgvsc: ENST00000404909.1:c.-63+389G>C
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000411628
  ensembl transcript: ENST00000427710
  gene symbol: RTN4
  hgvsc: ENST00000427710.1:c.-62-22108G>C
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000337838
  ensembl transcript: ENST00000337526
  gene symbol: RTN4
  hgvsc: ENST00000337526.6:c.-28G>C
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000378109
  ensembl transcript: ENST00000394611
  gene symbol: RTN4
  hgvsc: ENST00000394611.2:c.-63+100G>C
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000350365
  ensembl transcript: ENST00000357732
  gene symbol: RTN4
  hgvsc: ENST00000357732.4:c.-28G>C
  variant of: http://identifiers.org/hgnc/14085
canonical: true
consequence: 5' UTR
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13974
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11395
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7493
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4289
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

2-55277464-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55277464
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55277464
    reference: chr 2
allele count: 1
allele frequency: 1.676670802454646e-5
allele num: 59642
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000378109
  ensembl transcript: ENST00000394611
  gene symbol: RTN4
  hgvsc: ENST00000394611.2:c.-63+100G>A
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000385650
  ensembl transcript: ENST00000404909
  gene symbol: RTN4
  hgvsc: ENST00000404909.1:c.-63+389G>A
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000322147
  ensembl transcript: ENST00000317610
  gene symbol: RTN4
  hgvsc: ENST00000317610.7:c.-28G>A
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000350365
  ensembl transcript: ENST00000357732
  gene symbol: RTN4
  hgvsc: ENST00000357732.4:c.-28G>A
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000384825
  ensembl transcript: ENST00000402434
  gene symbol: RTN4
  hgvsc: ENST00000402434.2:c.-28G>A
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000411628
  ensembl transcript: ENST00000427710
  gene symbol: RTN4
  hgvsc: ENST00000427710.1:c.-62-22108G>A
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000337838
  ensembl transcript: ENST00000337526
  gene symbol: RTN4
  hgvsc: ENST00000337526.6:c.-28G>A
  variant of: http://identifiers.org/hgnc/14085
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13974
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15511
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11395
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5471
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2319
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3663
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1833
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

2-55277468-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55277468
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55277468
    reference: chr 2
allele count: 1
allele frequency: 1.747030048916841e-5
allele num: 57240
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000350365
  ensembl transcript: ENST00000357732
  gene symbol: RTN4
  hgvsc: ENST00000357732.4:c.-32A>G
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000322147
  ensembl transcript: ENST00000317610
  gene symbol: RTN4
  hgvsc: ENST00000317610.7:c.-32A>G
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000411628
  ensembl transcript: ENST00000427710
  gene symbol: RTN4
  hgvsc: ENST00000427710.1:c.-62-22112A>G
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000384825
  ensembl transcript: ENST00000402434
  gene symbol: RTN4
  hgvsc: ENST00000402434.2:c.-32A>G
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000337838
  ensembl transcript: ENST00000337526
  gene symbol: RTN4
  hgvsc: ENST00000337526.6:c.-32A>G
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000378109
  ensembl transcript: ENST00000394611
  gene symbol: RTN4
  hgvsc: ENST00000394611.2:c.-63+96A>G
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000385650
  ensembl transcript: ENST00000404909
  gene symbol: RTN4
  hgvsc: ENST00000404909.1:c.-63+385A>G
  variant of: http://identifiers.org/hgnc/14085
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11894
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14963
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4438
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12162
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16670
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-55277468-T-TGCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55277468
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55277471
    reference: chr 2
allele count: 1
allele frequency: 1.747030048916841e-5
allele num: 57240
alternate allele: TGCC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000378109
  ensembl transcript: ENST00000394611
  gene symbol: RTN4
  hgvsc: ENST00000394611.2:c.-63+93_-63+95dupGGC
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000411628
  ensembl transcript: ENST00000427710
  gene symbol: RTN4
  hgvsc: ENST00000427710.1:c.-62-22115_-62-22113dupGGC
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000385650
  ensembl transcript: ENST00000404909
  gene symbol: RTN4
  hgvsc: ENST00000404909.1:c.-63+382_-63+384dupGGC
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000350365
  ensembl transcript: ENST00000357732
  gene symbol: RTN4
  hgvsc: ENST00000357732.4:c.-35_-33dupGGC
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000322147
  ensembl transcript: ENST00000317610
  gene symbol: RTN4
  hgvsc: ENST00000317610.7:c.-35_-33dupGGC
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000384825
  ensembl transcript: ENST00000402434
  gene symbol: RTN4
  hgvsc: ENST00000402434.2:c.-35_-33dupGGC
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000337838
  ensembl transcript: ENST00000337526
  gene symbol: RTN4
  hgvsc: ENST00000337526.6:c.-35_-33dupGGC
  variant of: http://identifiers.org/hgnc/14085
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14963
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14472
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6134
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11894
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12162
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2306
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2608
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

2-55277468-TGCC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55277468
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55277465
    reference: chr 2
allele count: 1
allele frequency: 1.747030048916841e-5
allele num: 57240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000322147
  ensembl transcript: ENST00000317610
  gene symbol: RTN4
  hgvsc: ENST00000317610.7:c.-35_-33delGGC
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000350365
  ensembl transcript: ENST00000357732
  gene symbol: RTN4
  hgvsc: ENST00000357732.4:c.-35_-33delGGC
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000378109
  ensembl transcript: ENST00000394611
  gene symbol: RTN4
  hgvsc: ENST00000394611.2:c.-63+93_-63+95delGGC
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000384825
  ensembl transcript: ENST00000402434
  gene symbol: RTN4
  hgvsc: ENST00000402434.2:c.-35_-33delGGC
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000385650
  ensembl transcript: ENST00000404909
  gene symbol: RTN4
  hgvsc: ENST00000404909.1:c.-63+382_-63+384delGGC
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000411628
  ensembl transcript: ENST00000427710
  gene symbol: RTN4
  hgvsc: ENST00000427710.1:c.-62-22115_-62-22113delGGC
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000337838
  ensembl transcript: ENST00000337526
  gene symbol: RTN4
  hgvsc: ENST00000337526.6:c.-35_-33delGGC
  variant of: http://identifiers.org/hgnc/14085
canonical: true
consequence: 5' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 11894
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14963
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6134
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14472
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2608
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4438
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6389
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12162
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3754
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: TGCC
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

2-55277475-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55277475
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55277475
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 50494
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000350365
  ensembl transcript: ENST00000357732
  gene symbol: RTN4
  hgvsc: ENST00000357732.4:c.-39C>T
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000322147
  ensembl transcript: ENST00000317610
  gene symbol: RTN4
  hgvsc: ENST00000317610.7:c.-39C>T
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000378109
  ensembl transcript: ENST00000394611
  gene symbol: RTN4
  hgvsc: ENST00000394611.2:c.-63+89C>T
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000384825
  ensembl transcript: ENST00000402434
  gene symbol: RTN4
  hgvsc: ENST00000402434.2:c.-39C>T
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000411628
  ensembl transcript: ENST00000427710
  gene symbol: RTN4
  hgvsc: ENST00000427710.1:c.-62-22119C>T
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000337838
  ensembl transcript: ENST00000337526
  gene symbol: RTN4
  hgvsc: ENST00000337526.6:c.-39C>T
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000385650
  ensembl transcript: ENST00000404909
  gene symbol: RTN4
  hgvsc: ENST00000404909.1:c.-63+378C>T
  variant of: http://identifiers.org/hgnc/14085
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 16814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7357
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13040
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13018
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12839
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2762
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3152
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2886
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3898
  bin: 1.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum

2-55277476-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55277476
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55277476
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 51182
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000385650
  ensembl transcript: ENST00000404909
  gene symbol: RTN4
  hgvsc: ENST00000404909.1:c.-63+377G>A
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000378109
  ensembl transcript: ENST00000394611
  gene symbol: RTN4
  hgvsc: ENST00000394611.2:c.-63+88G>A
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000384825
  ensembl transcript: ENST00000402434
  gene symbol: RTN4
  hgvsc: ENST00000402434.2:c.-40G>A
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000337838
  ensembl transcript: ENST00000337526
  gene symbol: RTN4
  hgvsc: ENST00000337526.6:c.-40G>A
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000322147
  ensembl transcript: ENST00000317610
  gene symbol: RTN4
  hgvsc: ENST00000317610.7:c.-40G>A
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000350365
  ensembl transcript: ENST00000357732
  gene symbol: RTN4
  hgvsc: ENST00000357732.4:c.-40G>A
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000411628
  ensembl transcript: ENST00000427710
  gene symbol: RTN4
  hgvsc: ENST00000427710.1:c.-62-22120G>A
  variant of: http://identifiers.org/hgnc/14085
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13060
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17027
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13027
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3743
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4620
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS

2-55277480-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55277480
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55277480
    reference: chr 2
allele count: 1
allele frequency: 1.963942024431439e-5
allele num: 50918
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000411628
  ensembl transcript: ENST00000427710
  gene symbol: RTN4
  hgvsc: ENST00000427710.1:c.-62-22124G>C
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000385650
  ensembl transcript: ENST00000404909
  gene symbol: RTN4
  hgvsc: ENST00000404909.1:c.-63+373G>C
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000384825
  ensembl transcript: ENST00000402434
  gene symbol: RTN4
  hgvsc: ENST00000402434.2:c.-44G>C
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000322147
  ensembl transcript: ENST00000317610
  gene symbol: RTN4
  hgvsc: ENST00000317610.7:c.-44G>C
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000350365
  ensembl transcript: ENST00000357732
  gene symbol: RTN4
  hgvsc: ENST00000357732.4:c.-44G>C
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000378109
  ensembl transcript: ENST00000394611
  gene symbol: RTN4
  hgvsc: ENST00000394611.2:c.-63+84G>C
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000337838
  ensembl transcript: ENST00000337526
  gene symbol: RTN4
  hgvsc: ENST00000337526.6:c.-44G>C
  variant of: http://identifiers.org/hgnc/14085
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7097
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4047
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12856
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17610
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13073
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2182
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3644
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3675
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3138
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3734
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3707
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

2-55277481-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55277481
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55277481
    reference: chr 2
allele count: 1
allele frequency: 1.971142474178034e-5
allele num: 50732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000384825
  ensembl transcript: ENST00000402434
  gene symbol: RTN4
  hgvsc: ENST00000402434.2:c.-45C>T
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000337838
  ensembl transcript: ENST00000337526
  gene symbol: RTN4
  hgvsc: ENST00000337526.6:c.-45C>T
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000350365
  ensembl transcript: ENST00000357732
  gene symbol: RTN4
  hgvsc: ENST00000357732.4:c.-45C>T
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000322147
  ensembl transcript: ENST00000317610
  gene symbol: RTN4
  hgvsc: ENST00000317610.7:c.-45C>T
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000385650
  ensembl transcript: ENST00000404909
  gene symbol: RTN4
  hgvsc: ENST00000404909.1:c.-63+372C>T
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000378109
  ensembl transcript: ENST00000394611
  gene symbol: RTN4
  hgvsc: ENST00000394611.2:c.-63+83C>T
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000411628
  ensembl transcript: ENST00000427710
  gene symbol: RTN4
  hgvsc: ENST00000427710.1:c.-62-22125C>T
  variant of: http://identifiers.org/hgnc/14085
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13082
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17845
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7035
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1452
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2156
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3716
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12996
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4621
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3718
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-55277481-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55277481
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55277481
    reference: chr 2
allele count: 2
allele frequency: 3.942284948356067e-5
allele num: 50732
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000385650
  ensembl transcript: ENST00000404909
  gene symbol: RTN4
  hgvsc: ENST00000404909.1:c.-63+372C>G
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000378109
  ensembl transcript: ENST00000394611
  gene symbol: RTN4
  hgvsc: ENST00000394611.2:c.-63+83C>G
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000337838
  ensembl transcript: ENST00000337526
  gene symbol: RTN4
  hgvsc: ENST00000337526.6:c.-45C>G
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000322147
  ensembl transcript: ENST00000317610
  gene symbol: RTN4
  hgvsc: ENST00000317610.7:c.-45C>G
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000411628
  ensembl transcript: ENST00000427710
  gene symbol: RTN4
  hgvsc: ENST00000427710.1:c.-62-22125C>G
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000350365
  ensembl transcript: ENST00000357732
  gene symbol: RTN4
  hgvsc: ENST00000357732.4:c.-45C>G
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000384825
  ensembl transcript: ENST00000402434
  gene symbol: RTN4
  hgvsc: ENST00000402434.2:c.-45C>G
  variant of: http://identifiers.org/hgnc/14085
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17845
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7035
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12771
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13082
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3485
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2156
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3155
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3716
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3729
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4621
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3718
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

2-55277483-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55277483
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55277483
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 50564
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000384825
  ensembl transcript: ENST00000402434
  gene symbol: RTN4
  hgvsc: ENST00000402434.2:c.-47C>A
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000385650
  ensembl transcript: ENST00000404909
  gene symbol: RTN4
  hgvsc: ENST00000404909.1:c.-63+370C>A
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000322147
  ensembl transcript: ENST00000317610
  gene symbol: RTN4
  hgvsc: ENST00000317610.7:c.-47C>A
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000337838
  ensembl transcript: ENST00000337526
  gene symbol: RTN4
  hgvsc: ENST00000337526.6:c.-47C>A
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000378109
  ensembl transcript: ENST00000394611
  gene symbol: RTN4
  hgvsc: ENST00000394611.2:c.-63+81C>A
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000350365
  ensembl transcript: ENST00000357732
  gene symbol: RTN4
  hgvsc: ENST00000357732.4:c.-47C>A
  variant of: http://identifiers.org/hgnc/14085
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115310
  ensembl protein: ENSP00000411628
  ensembl transcript: ENST00000427710
  gene symbol: RTN4
  hgvsc: ENST00000427710.1:c.-62-22127C>A
  variant of: http://identifiers.org/hgnc/14085
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 12608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6933
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13043
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18185
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3884
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12793
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3743
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

2-55402887-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55402887
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55402887
    reference: chr 2
allele count: 1
allele frequency: 8.620986930583814e-6
allele num: 115996
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.*39C>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.*39C>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*692C>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.484C>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.*39C>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.*39C>T
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23462
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4581
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2760
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5208
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32344
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

2-55402891-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55402891
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55402891
    reference: chr 2
allele count: 1
allele frequency: 8.587671538738987e-6
allele num: 116446
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.*35A>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.480A>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.*35A>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.*35A>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.*35A>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*688A>G
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5423
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5418
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2432
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34294
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4580
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

2-55402893-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55402893
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55402893
    reference: chr 2
allele count: 1
allele frequency: 8.587376556462001e-6
allele num: 116450
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.*33C>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.*33C>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.*33C>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*686C>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.478C>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.*33C>G
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25532
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4557
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5387
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35262
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
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genotype quality: GenotypeQuality
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1933
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/2-55402895-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55402895
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55402895
    reference: chr 2
allele count: 1
allele frequency: 8.568833439015613e-6
allele num: 116702
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.*31T>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.*31T>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.*31T>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.*31T>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*684T>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.476T>G
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4438
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26178
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2301
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1961
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD

2-55402908-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55402908
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55402908
    reference: chr 2
allele count: 1
allele frequency: 8.445660619573662e-6
allele num: 118404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.*18C>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.*18C>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.*18C>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.*18C>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*671C>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.463C>G
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17126
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4575
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1497
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/2-55402909-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55402909
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55402909
    reference: chr 2
allele count: 139
allele frequency: 1.172975983527704e-3
allele num: 118502
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*670G>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.*17G>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.*17G>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.*17G>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.*17G>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.462G>T
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29033
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17245
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 3.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1365
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 2
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

2-55402911-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55402911
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55402911
    reference: chr 2
allele count: 1
allele frequency: 8.413117733169558e-6
allele num: 118862
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.*15C>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.*15C>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*668C>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.*15C>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.*15C>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.460C>G
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5775
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

2-55402917-G-GAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55402917
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55402919
    reference: chr 2
allele count: 1
allele frequency: 8.362462577979963e-6
allele num: 119582
alternate allele: GAT
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.*7_*8dupAT
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.*7_*8dupAT
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*660_*661dupAT
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.452_453dupAT
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.*7_*8dupAT
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.*7_*8dupAT
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: 3' UTR
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43141
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

2-55402920-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55402920
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55402920
    reference: chr 2
allele count: 1
allele frequency: 8.343623802689983e-6
allele num: 119852
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.*6T>C
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.*6T>C
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.*6T>C
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.451T>C
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*659T>C
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.*6T>C
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43480
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5846
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4547
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

2-55402921-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55402921
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55402921
    reference: chr 2
allele count: 2
allele frequency: 1.667333600106709e-5
allele num: 119952
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.450A>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.*5A>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.*5A>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*658A>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.*5A>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.*5A>T
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4940
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4549
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43564
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

2-55402921-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55402921
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55402921
    reference: chr 2
allele count: 2
allele frequency: 1.667333600106709e-5
allele num: 119952
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.*5A>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.*5A>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.*5A>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.450A>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.*5A>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*658A>G
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1570
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43564
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5860
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

2-55402923-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55402923
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55402923
    reference: chr 2
allele count: 1
allele frequency: 8.326671995736744e-6
allele num: 120096
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.448C>A
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.*3C>A
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.*3C>A
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.*3C>A
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*656C>A
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.*3C>A
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5872
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4546
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

2-55402935-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55402935
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55402935
    reference: chr 2
allele count: 1
allele frequency: 8.277597510098669e-6
allele num: 120808
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1386G>C
  hgvsp: ENST00000406076.1:c.1386G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1752G>C
  hgvsp: ENST00000401408.1:c.1752G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1752G>C
  hgvsp: ENST00000407122.1:c.1752G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.405G>C
  hgvsp: ENST00000406437.2:c.405G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*644G>C
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.436G>C
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30537
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44506
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5935
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val584Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

2-55402939-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55402939
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55402939
    reference: chr 2
allele count: 2
allele frequency: 1.653794631782625e-5
allele num: 120934
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1748A>G
  hgvsp: ENSP00000384869.1:p.His583Arg
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1382A>G
  hgvsp: ENSP00000385512.1:p.His461Arg
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.432A>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*640A>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.401A>G
  hgvsp: ENSP00000384810.2:p.His134Arg
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1748A>G
  hgvsp: ENSP00000385778.1:p.His583Arg
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30545
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1570
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44732
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His583Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

2-55402951-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55402951
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55402951
    reference: chr 2
allele count: 6
allele frequency: 4.953028777097195e-5
allele num: 121138
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*628A>C
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.389A>C
  hgvsp: ENSP00000384810.2:p.Asn130Thr
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1736A>C
  hgvsp: ENSP00000385778.1:p.Asn579Thr
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.420A>C
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1370A>C
  hgvsp: ENSP00000385512.1:p.Asn457Thr
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1736A>C
  hgvsp: ENSP00000384869.1:p.Asn579Thr
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44948
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn579Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/2-55402954-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55402954
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55402954
    reference: chr 2
allele count: 7
allele frequency: 5.776816808886395e-5
allele num: 121174
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*625T>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.386T>G
  hgvsp: ENSP00000384810.2:p.Val129Gly
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.417T>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1367T>G
  hgvsp: ENSP00000385512.1:p.Val456Gly
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1733T>G
  hgvsp: ENSP00000384869.1:p.Val578Gly
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1733T>G
  hgvsp: ENSP00000385778.1:p.Val578Gly
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30531
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5062
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4549
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5981
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1577
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val578Gly
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/2-55402955-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55402955
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55402955
    reference: chr 2
allele count: 1
allele frequency: 8.25218682950982e-6
allele num: 121180
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.385G>T
  hgvsp: ENSP00000384810.2:p.Val129Phe
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1732G>T
  hgvsp: ENSP00000384869.1:p.Val578Phe
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1732G>T
  hgvsp: ENSP00000385778.1:p.Val578Phe
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1366G>T
  hgvsp: ENSP00000385512.1:p.Val456Phe
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.416G>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*624G>T
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5985
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val578Phe
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-55402955-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55402955
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55402955
    reference: chr 2
allele count: 3
allele frequency: 2.475656048852946e-5
allele num: 121180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.416G>A
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*624G>A
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1366G>A
  hgvsp: ENSP00000385512.1:p.Val456Ile
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.385G>A
  hgvsp: ENSP00000384810.2:p.Val129Ile
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1732G>A
  hgvsp: ENSP00000385778.1:p.Val578Ile
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1732G>A
  hgvsp: ENSP00000384869.1:p.Val578Ile
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5985
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44985
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val578Ile
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

2-55402958-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55402958
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55402958
    reference: chr 2
allele count: 7
allele frequency: 5.775101064268625e-5
allele num: 121210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*621G>A
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1729G>A
  hgvsp: ENSP00000384869.1:p.Ala577Thr
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1363G>A
  hgvsp: ENSP00000385512.1:p.Ala455Thr
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.413G>A
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.382G>A
  hgvsp: ENSP00000384810.2:p.Ala128Thr
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1729G>A
  hgvsp: ENSP00000385778.1:p.Ala577Thr
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5986
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4551
  bin: 9.75e1
  variant carriers: 7
hgvs: p.Ala577Thr
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

2-55402959-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55402959
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55402959
    reference: chr 2
allele count: 51
allele frequency: 4.20757363253857e-4
allele num: 121210
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.412C>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*620C>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1362C>T
  hgvsp: ENST00000406076.1:c.1362C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1728C>T
  hgvsp: ENST00000407122.1:c.1728C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.381C>T
  hgvsp: ENST00000406437.2:c.381C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1728C>T
  hgvsp: ENST00000401408.1:c.1728C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5070
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45010
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5990
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4583
  bin: 9.75e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp576Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

2-55402960-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55402960
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55402960
    reference: chr 2
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1361A>C
  hgvsp: ENSP00000385512.1:p.Asp454Ala
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1727A>C
  hgvsp: ENSP00000384869.1:p.Asp576Ala
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*619A>C
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.411A>C
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1727A>C
  hgvsp: ENSP00000385778.1:p.Asp576Ala
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.380A>C
  hgvsp: ENSP00000384810.2:p.Asp127Ala
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18909
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45040
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp576Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS

2-55402976-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55402976
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55402976
    reference: chr 2
allele count: 3
allele frequency: 2.47320692497939e-5
allele num: 121300
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*603A>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.395A>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1345A>G
  hgvsp: ENSP00000385512.1:p.Ile449Val
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1711A>G
  hgvsp: ENSP00000384869.1:p.Ile571Val
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1711A>G
  hgvsp: ENSP00000385778.1:p.Ile571Val
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.364A>G
  hgvsp: ENSP00000384810.2:p.Ile122Val
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5082
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6010
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile571Val
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

2-55402977-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55402977
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55402977
    reference: chr 2
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1710A>T
  hgvsp: ENSP00000384869.1:p.Glu570Asp
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.394A>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.363A>T
  hgvsp: ENSP00000384810.2:p.Glu121Asp
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1344A>T
  hgvsp: ENSP00000385512.1:p.Glu448Asp
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1710A>T
  hgvsp: ENSP00000385778.1:p.Glu570Asp
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*602A>T
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5085
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18961
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45130
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu570Asp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum

2-55402980-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55402980
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55402980
    reference: chr 2
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1707A>C
  hgvsp: ENST00000401408.1:c.1707A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1707A>C
  hgvsp: ENST00000407122.1:c.1707A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1341A>C
  hgvsp: ENST00000406076.1:c.1341A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.360A>C
  hgvsp: ENST00000406437.2:c.360A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.391A>C
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*599A>C
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18963
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30492
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45135
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4539
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr569Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

2-55402981-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55402981
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55402981
    reference: chr 2
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.390C>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1706C>T
  hgvsp: ENSP00000385778.1:p.Thr569Ile
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.359C>T
  hgvsp: ENSP00000384810.2:p.Thr120Ile
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*598C>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1706C>T
  hgvsp: ENSP00000384869.1:p.Thr569Ile
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1340C>T
  hgvsp: ENSP00000385512.1:p.Thr447Ile
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45134
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr569Ile
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

2-55402987-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55402987
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55402987
    reference: chr 2
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*592C>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1334C>T
  hgvsp: ENSP00000385512.1:p.Ala445Val
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.384C>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.353C>T
  hgvsp: ENSP00000384810.2:p.Ala118Val
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1700C>T
  hgvsp: ENSP00000384869.1:p.Ala567Val
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1700C>T
  hgvsp: ENSP00000385778.1:p.Ala567Val
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30467
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6009
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45139
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala567Val
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

2-55402988-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55402988
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55402988
    reference: chr 2
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.383G>A
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1699G>A
  hgvsp: ENSP00000385778.1:p.Ala567Thr
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*591G>A
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1333G>A
  hgvsp: ENSP00000385512.1:p.Ala445Thr
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1699G>A
  hgvsp: ENSP00000384869.1:p.Ala567Thr
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.352G>A
  hgvsp: ENSP00000384810.2:p.Ala118Thr
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6010
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45144
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala567Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

2-55402999-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55402999
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55402999
    reference: chr 2
allele count: 12
allele frequency: 9.892012200148381e-5
allele num: 121310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1688G>A
  hgvsp: ENSP00000385778.1:p.Arg563Gln
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*580G>A
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.372G>A
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.341G>A
  hgvsp: ENSP00000384810.2:p.Arg114Gln
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000399821
  ensembl transcript: ENST00000411884
  gene symbol: CLHC1
  hgvsc: ENST00000411884.2:c.*397G>A
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1322G>A
  hgvsp: ENSP00000385512.1:p.Arg441Gln
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1688G>A
  hgvsp: ENSP00000384869.1:p.Arg563Gln
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19020
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45132
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6003
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg563Gln
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

2-55403000-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55403000
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55403000
    reference: chr 2
allele count: 21
allele frequency: 1.731102135025967e-4
allele num: 121310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*579C>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1321C>T
  hgvsp: ENSP00000385512.1:p.Arg441Ter
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1687C>T
  hgvsp: ENSP00000385778.1:p.Arg563Ter
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.340C>T
  hgvsp: ENSP00000384810.2:p.Arg114Ter
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.371C>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000399821
  ensembl transcript: ENST00000411884
  gene symbol: CLHC1
  hgvsc: ENST00000411884.2:c.*396C>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1687C>T
  hgvsp: ENSP00000384869.1:p.Arg563Ter
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30424
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5083
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4557
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg563Ter
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

2-55403006-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55403006
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55403006
    reference: chr 2
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1681A>G
  hgvsp: ENSP00000384869.1:p.Ile561Val
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*573A>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000399821
  ensembl transcript: ENST00000411884
  gene symbol: CLHC1
  hgvsc: ENST00000411884.2:c.*390A>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1315A>G
  hgvsp: ENSP00000385512.1:p.Ile439Val
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.334A>G
  hgvsp: ENSP00000384810.2:p.Ile112Val
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1681A>G
  hgvsp: ENSP00000385778.1:p.Ile561Val
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.365A>G
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45156
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1559
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile561Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

2-55403010-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55403010
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55403010
    reference: chr 2
allele count: 27
allele frequency: 2.225592667084309e-4
allele num: 121316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000399821
  ensembl transcript: ENST00000411884
  gene symbol: CLHC1
  hgvsc: ENST00000411884.2:c.*386G>A
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.361G>A
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*569G>A
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1677G>A
  hgvsp: ENST00000407122.1:c.1677G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1311G>A
  hgvsp: ENST00000406076.1:c.1311G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.330G>A
  hgvsp: ENST00000406437.2:c.330G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1677G>A
  hgvsp: ENST00000401408.1:c.1677G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 942
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1556
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr559Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum

2-55403011-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55403011
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55403011
    reference: chr 2
allele count: 2
allele frequency: 1.648559982854976e-5
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000399821
  ensembl transcript: ENST00000411884
  gene symbol: CLHC1
  hgvsc: ENST00000411884.2:c.*385C>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1676C>T
  hgvsp: ENSP00000385778.1:p.Thr559Met
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.329C>T
  hgvsp: ENSP00000384810.2:p.Thr110Met
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1310C>T
  hgvsp: ENSP00000385512.1:p.Thr437Met
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1676C>T
  hgvsp: ENSP00000384869.1:p.Thr559Met
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.360C>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*568C>T
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5999
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4532
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Thr559Met
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

2-55403032-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55403032
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55403032
    reference: chr 2
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*547A>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.339A>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.308A>T
  hgvsp: ENSP00000384810.2:p.Asp103Val
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1289A>T
  hgvsp: ENSP00000385512.1:p.Asp430Val
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1655A>T
  hgvsp: ENSP00000385778.1:p.Asp552Val
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1655A>T
  hgvsp: ENSP00000384869.1:p.Asp552Val
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000399821
  ensembl transcript: ENST00000411884
  gene symbol: CLHC1
  hgvsc: ENST00000411884.2:c.*364A>T
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30363
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6000
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1558
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp552Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-55403049-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55403049
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55403049
    reference: chr 2
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*530T>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1638T>G
  hgvsp: ENSP00000385778.1:p.Cys546Trp
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000399821
  ensembl transcript: ENST00000411884
  gene symbol: CLHC1
  hgvsc: ENST00000411884.2:c.*347T>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.322T>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1638T>G
  hgvsp: ENSP00000384869.1:p.Cys546Trp
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.291T>G
  hgvsp: ENSP00000384810.2:p.Cys97Trp
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1272T>G
  hgvsp: ENSP00000385512.1:p.Cys424Trp
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4529
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  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: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Cys546Trp
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

2-55403080-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55403080
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55403080
    reference: chr 2
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*499T>C
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000399821
  ensembl transcript: ENST00000411884
  gene symbol: CLHC1
  hgvsc: ENST00000411884.2:c.*316T>C
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1607T>C
  hgvsp: ENSP00000384869.1:p.Ile536Thr
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1241T>C
  hgvsp: ENSP00000385512.1:p.Ile414Thr
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1607T>C
  hgvsp: ENSP00000385778.1:p.Ile536Thr
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.260T>C
  hgvsp: ENSP00000384810.2:p.Ile87Thr
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.291T>C
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30247
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile536Thr
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

2-55403081-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55403081
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55403081
    reference: chr 2
allele count: 10
allele frequency: 8.24783082049421e-5
allele num: 121244
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*498A>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1606A>G
  hgvsp: ENSP00000384869.1:p.Ile536Val
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.290A>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1240A>G
  hgvsp: ENSP00000385512.1:p.Ile414Val
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000399821
  ensembl transcript: ENST00000411884
  gene symbol: CLHC1
  hgvsc: ENST00000411884.2:c.*315A>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1606A>G
  hgvsp: ENSP00000385778.1:p.Ile536Val
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.259A>G
  hgvsp: ENSP00000384810.2:p.Ile87Val
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4534
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile536Val
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

2-55403082-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55403082
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55403082
    reference: chr 2
allele count: 2
allele frequency: 1.649947201689546e-5
allele num: 121216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.289C>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1605C>T
  hgvsp: ENST00000401408.1:c.1605C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*497C>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1605C>T
  hgvsp: ENST00000407122.1:c.1605C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000399821
  ensembl transcript: ENST00000411884
  gene symbol: CLHC1
  hgvsc: ENST00000411884.2:c.*314C>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1239C>T
  hgvsp: ENST00000406076.1:c.1239C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.258C>T
  hgvsp: ENST00000406437.2:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5987
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser535Ser
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

2-55403083-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55403083
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55403083
    reference: chr 2
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*496C>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1604C>G
  hgvsp: ENSP00000385778.1:p.Ser535Cys
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000399821
  ensembl transcript: ENST00000411884
  gene symbol: CLHC1
  hgvsc: ENST00000411884.2:c.*313C>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.257C>G
  hgvsp: ENSP00000384810.2:p.Ser86Cys
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1238C>G
  hgvsp: ENSP00000385512.1:p.Ser413Cys
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.288C>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1604C>G
  hgvsp: ENSP00000384869.1:p.Ser535Cys
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45078
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser535Cys
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-55403084-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55403084
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55403084
    reference: chr 2
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1237T>G
  hgvsp: ENSP00000385512.1:p.Ser413Ala
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1603T>G
  hgvsp: ENSP00000384869.1:p.Ser535Ala
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000399821
  ensembl transcript: ENST00000411884
  gene symbol: CLHC1
  hgvsc: ENST00000411884.2:c.*312T>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*495T>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.256T>G
  hgvsp: ENSP00000384810.2:p.Ser86Ala
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.287T>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1603T>G
  hgvsp: ENSP00000385778.1:p.Ser535Ala
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4530
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser535Ala
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

2-55403084-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55403084
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55403084
    reference: chr 2
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1603T>C
  hgvsp: ENSP00000384869.1:p.Ser535Pro
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.287T>C
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.256T>C
  hgvsp: ENSP00000384810.2:p.Ser86Pro
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*495T>C
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1603T>C
  hgvsp: ENSP00000385778.1:p.Ser535Pro
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1237T>C
  hgvsp: ENSP00000385512.1:p.Ser413Pro
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000399821
  ensembl transcript: ENST00000411884
  gene symbol: CLHC1
  hgvsc: ENST00000411884.2:c.*312T>C
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30215
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4530
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser535Pro
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-55403086-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55403086
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55403086
    reference: chr 2
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000399821
  ensembl transcript: ENST00000411884
  gene symbol: CLHC1
  hgvsc: ENST00000411884.2:c.*310G>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*493G>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.285G>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1235G>T
  hgvsp: ENSP00000385512.1:p.Cys412Phe
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1601G>T
  hgvsp: ENSP00000385778.1:p.Cys534Phe
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1601G>T
  hgvsp: ENSP00000384869.1:p.Cys534Phe
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.254G>T
  hgvsp: ENSP00000384810.2:p.Cys85Phe
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30177
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5982
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4529
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Cys534Phe
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-55403090-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55403090
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55403090
    reference: chr 2
allele count: 3
allele frequency: 2.475860361475613e-5
allele num: 121170
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000399821
  ensembl transcript: ENST00000411884
  gene symbol: CLHC1
  hgvsc: ENST00000411884.2:c.*306T>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.281T>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1597T>G
  hgvsp: ENSP00000384869.1:p.Phe533Val
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1597T>G
  hgvsp: ENSP00000385778.1:p.Phe533Val
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1231T>G
  hgvsp: ENSP00000385512.1:p.Phe411Val
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*489T>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.250T>G
  hgvsp: ENSP00000384810.2:p.Phe84Val
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19106
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4532
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Phe533Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

2-55403110-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55403110
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55403110
    reference: chr 2
allele count: 1
allele frequency: 8.279242283746192e-6
allele num: 120784
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000399821
  ensembl transcript: ENST00000411884
  gene symbol: CLHC1
  hgvsc: ENST00000411884.2:c.*286G>C
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1577G>C
  hgvsp: ENSP00000385778.1:p.Ser526Thr
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1577G>C
  hgvsp: ENSP00000384869.1:p.Ser526Thr
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.230G>C
  hgvsp: ENSP00000384810.2:p.Ser77Thr
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*469G>C
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1211G>C
  hgvsp: ENSP00000385512.1:p.Ser404Thr
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.261G>C
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1537
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44481
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser526Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

2-55403116-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55403116
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55403116
    reference: chr 2
allele count: 3
allele frequency: 2.490577315821807e-5
allele num: 120454
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.255T>C
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1571T>C
  hgvsp: ENSP00000385778.1:p.Val524Ala
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1571T>C
  hgvsp: ENSP00000384869.1:p.Val524Ala
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.224T>C
  hgvsp: ENSP00000384810.2:p.Val75Ala
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*463T>C
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000399821
  ensembl transcript: ENST00000411884
  gene symbol: CLHC1
  hgvsc: ENST00000411884.2:c.*280T>C
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1205T>C
  hgvsp: ENSP00000385512.1:p.Val402Ala
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5869
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val524Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP

2-55403118-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55403118
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55403118
    reference: chr 2
allele count: 30
allele frequency: 2.494926981803666e-4
allele num: 120244
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000399821
  ensembl transcript: ENST00000411884
  gene symbol: CLHC1
  hgvsc: ENST00000411884.2:c.*278A>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1203A>G
  hgvsp: ENST00000406076.1:c.1203A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*461A>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.253A>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1569A>G
  hgvsp: ENST00000401408.1:c.1569A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1569A>G
  hgvsp: ENST00000407122.1:c.1569A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.222A>G
  hgvsp: ENST00000406437.2:c.222A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 18907
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43848
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala523Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/2-55403120-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55403120
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55403120
    reference: chr 2
allele count: 1
allele frequency: 8.331944675887353e-6
allele num: 120020
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1201G>T
  hgvsp: ENSP00000385512.1:p.Ala401Ser
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*459G>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1567G>T
  hgvsp: ENSP00000385778.1:p.Ala523Ser
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.220G>T
  hgvsp: ENSP00000384810.2:p.Ala74Ser
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1567G>T
  hgvsp: ENSP00000384869.1:p.Ala523Ser
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.251G>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000399821
  ensembl transcript: ENST00000411884
  gene symbol: CLHC1
  hgvsc: ENST00000411884.2:c.*276G>T
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala523Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

2-55403120-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55403120
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55403120
    reference: chr 2
allele count: 7
allele frequency: 5.832361273121146e-5
allele num: 120020
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*459G>A
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1201G>A
  hgvsp: ENSP00000385512.1:p.Ala401Thr
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1567G>A
  hgvsp: ENSP00000384869.1:p.Ala523Thr
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000399821
  ensembl transcript: ENST00000411884
  gene symbol: CLHC1
  hgvsc: ENST00000411884.2:c.*276G>A
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.251G>A
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.220G>A
  hgvsp: ENSP00000384810.2:p.Ala74Thr
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1567G>A
  hgvsp: ENSP00000385778.1:p.Ala523Thr
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18889
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5799
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala523Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-55403123-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55403123
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55403123
    reference: chr 2
allele count: 1
allele frequency: 8.354358468813179e-6
allele num: 119698
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000399821
  ensembl transcript: ENST00000411884
  gene symbol: CLHC1
  hgvsc: ENST00000411884.2:c.*274-1G>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.249-1G>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1565-1G>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1199-1G>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1565-1G>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*457-1G>T
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.218-1G>T
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28413
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5757
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42947
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 7.75e1
  variant carriers: 0
hgvs: c.1565-1G>T
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP

2-55403125-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55403125
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55403125
    reference: chr 2
allele count: 2
allele frequency: 1.674284661878213e-5
allele num: 119454
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1199-3C>A
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*457-3C>A
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000399821
  ensembl transcript: ENST00000411884
  gene symbol: CLHC1
  hgvsc: ENST00000411884.2:c.*274-3C>A
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.249-3C>A
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.218-3C>A
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1565-3C>A
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1565-3C>A
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42541
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5740
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
hgvs: c.1565-3C>A
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

2-55403125-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55403125
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55403124
    reference: chr 2
allele count: 1
allele frequency: 8.371423309391063e-6
allele num: 119454
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000399821
  ensembl transcript: ENST00000411884
  gene symbol: CLHC1
  hgvsc: ENST00000411884.2:c.*274-4delA
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.218-4delA
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1565-4delA
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1199-4delA
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1565-4delA
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*457-4delA
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.249-4delA
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1352
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4528
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1933
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1565-4delA
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: GT
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-55403126-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55403126
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55403126
    reference: chr 2
allele count: 1
allele frequency: 8.381948635418762e-6
allele num: 119304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000399821
  ensembl transcript: ENST00000411884
  gene symbol: CLHC1
  hgvsc: ENST00000411884.2:c.*274-4A>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*457-4A>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.218-4A>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1565-4A>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.249-4A>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1565-4A>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1199-4A>G
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18631
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1500
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1565-4A>G
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

2-55403128-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 55403128
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 55403128
    reference: chr 2
allele count: 3
allele frequency: 2.520245976007258e-5
allele num: 119036
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385512
  ensembl transcript: ENST00000406076
  gene symbol: CLHC1
  hgvsc: ENST00000406076.1:c.1199-6C>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000401526
  ensembl transcript: ENST00000428621
  gene symbol: CLHC1
  hgvsc: ENST00000428621.1:c.*457-6C>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000385778
  ensembl transcript: ENST00000407122
  gene symbol: CLHC1
  hgvsc: ENST00000407122.1:c.1565-6C>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000399821
  ensembl transcript: ENST00000411884
  gene symbol: CLHC1
  hgvsc: ENST00000411884.2:c.*274-6C>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384810
  ensembl transcript: ENST00000406437
  gene symbol: CLHC1
  hgvsc: ENST00000406437.2:c.218-6C>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162994
  ensembl transcript: ENST00000494539
  gene symbol: CLHC1
  hgvsc: ENST00000494539.1:n.249-6C>G
  variant of: http://identifiers.org/hgnc/26453
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162994
  ensembl protein: ENSP00000384869
  ensembl transcript: ENST00000401408
  gene symbol: CLHC1
  hgvsc: ENST00000401408.1:c.1565-6C>G
  variant of: http://identifiers.org/hgnc/26453
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4983
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4528
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41744
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.75e1
  variant carriers: 0
hgvs: c.1565-6C>G
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQ

GenotypeQuality
all individuals: 20381
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2305
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18323
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1551
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3878
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5812
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6074
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.183215439699589e-5
allele num: 45804
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.931e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.75e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.63e-1

QD
type: SiteQuality
SIO_000300: 2.304e1

MQRankSum
type: SiteQuality
SIO_000300: 6.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.509e0

DP
type: SiteQuality
SIO_000300: 8.35433e5

GenotypeQuality
all individuals: 223
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1513
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 819
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 9.75e1
variant carriers: 25

GenotypeQuality
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17529
bin: 6.25e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5420
num of homozygotes: 0

Latino
type: Population
allele count: 23
allele frequency: 3.353747448235637e-3
allele num: 6858
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45274
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6024
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3760
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.149e0

VQSLOD
type: SiteQuality
SIO_000300: 5.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.122e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.46e-1

QD
type: SiteQuality
SIO_000300: 9.44e0

DP
type: SiteQuality
SIO_000300: 8.21189e5

GenotypeQuality
all individuals: 20790
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2457
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1507
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45098
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 1.474926253687316e-4
allele num: 6780
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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ClippingRankSum
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QD
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MQRankSum
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BaseQRankSum
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FS
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SIO_000300: 1.971e0

DP
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 44136
num of homozygotes: 0

East Asian
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allele frequency: 5.074424898511502e-4
allele num: 5912
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3558
num of homozygotes: 0

South Asian
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allele frequency: 5.683971201212581e-4
allele num: 5278
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African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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FS
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DP
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ClippingRankSum
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 3494
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 4
allele frequency: 9.11410864017499e-5
allele num: 43888
num of homozygotes: 0

Other
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MQRankSum
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SIO_000300: 2.46e-1

ReadPosRankSum
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MQ
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SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
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SIO_000300: 4.436e0

BaseQRankSum
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SIO_000300: 7.94e-1

QD
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SIO_000300: 9.710000000000001e0

ClippingRankSum
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SIO_000300: 2.67e-1

DP
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SIO_000300: 7.81755e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 42522
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African
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allele num: 5292
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 3160
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Other
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East Asian
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MQRankSum
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FS
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SIO_000300: 0.0e0

QD
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DP
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VQSLOD
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MQ
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5718
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3160
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 42522
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 394
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.968503937007874e-4
allele num: 5080
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e0

DP
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.674e1

InbreedingCoeff
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FS
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SIO_000300: 0.0e0

ReadPosRankSum
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 4.27e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5314
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 5506
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.526656223154278e-5
allele num: 39578
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Other
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allele frequency: 0.0e0
allele num: 348
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African
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South Asian
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DP
type: SiteQuality
SIO_000300: 6.79772e5

FS
type: SiteQuality
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ClippingRankSum
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MQ
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BaseQRankSum
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MQRankSum
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SIO_000300: 5.36e-1

InbreedingCoeff
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SIO_000300: -2.49e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.899999999999999e-1

ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4738
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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DP
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VQSLOD
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QD
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FS
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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Other
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East Asian
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Latino
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South Asian
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African
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InbreedingCoeff
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VQSLOD
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MQ
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QD
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ClippingRankSum
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ReadPosRankSum
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FS
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BaseQRankSum
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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African
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East Asian
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Other
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European (Finnish)
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Latino
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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QD
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FS
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VQSLOD
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MQ
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MQRankSum
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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East Asian
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Latino
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Other
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South Asian
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European (Finnish)
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InbreedingCoeff
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QD
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FS
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DP
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MQ
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ClippingRankSum
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MQRankSum
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4438
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4474
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4898
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.29147571035747e-4
allele num: 4364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2350
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 304
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

QD
type: SiteQuality
SIO_000300: 1.021e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.01e-2

DP
type: SiteQuality
SIO_000300: 6.21142e5

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.74e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.372e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.88e-1

GenotypeQuality
all individuals: 2001
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2306
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 838
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16670
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4898
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2350
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 304
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4364
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.327746741154562e-4
allele num: 4296
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.04e-1

DP
type: SiteQuality
SIO_000300: 6.21142e5

FS
type: SiteQuality
SIO_000300: 9.372e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.01e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.74e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

QD
type: SiteQuality
SIO_000300: 1.021e1

GenotypeQuality
all individuals: 10
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3674
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4587
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1337
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4358
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3238
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3750
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2188
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3966
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.04e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.358e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.1998e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-2

QD
type: SiteQuality
SIO_000300: 9.16e0

DP
type: SiteQuality
SIO_000300: 5.80915e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.626e0

GenotypeQuality
all individuals: 2282
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4640
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3846
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 12809
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 827
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13660
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3147
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4038
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3284
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3760
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33118
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2320
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -8.42e-2

DP
type: SiteQuality
SIO_000300: 5.80549e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.93e-2

QD
type: SiteQuality
SIO_000300: 2.24e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 1345
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12980
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4601
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15041
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3742
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4358
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.502502502502502e-4
allele num: 3996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32938
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2350
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.376e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.584e0

DP
type: SiteQuality
SIO_000300: 5.79218e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.318e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.85e0

QD
type: SiteQuality
SIO_000300: 1.179e1

GenotypeQuality
all individuals: 3729
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15295
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3485
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3155
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.045066991473813e-5
allele num: 32840
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2356
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4018
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3208
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4334
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3704
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.92e-2

DP
type: SiteQuality
SIO_000300: 5.78782e5

MQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.285e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.021e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.83e-1

GenotypeQuality
all individuals: 456
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1345
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12996
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15295
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1452
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3704
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.090133982947625e-5
allele num: 32840
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4334
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4018
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2356
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.78782e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.57e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.285e0

QD
type: SiteQuality
SIO_000300: 1.021e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.92e-2

GenotypeQuality
all individuals: 15001
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2092
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4685
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3779
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3494
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32752
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4322
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4014
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3688
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.93e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.869999999999999e0

DP
type: SiteQuality
SIO_000300: 5.76306e5

VQSLOD
type: SiteQuality
SIO_000300: 3.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.31e-1

GenotypeQuality
all individuals: 1543
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2511
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1610
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2637
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1344
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.192179303767287e-4
allele num: 8388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11272
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14306
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: 64420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.631e1

DP
type: SiteQuality
SIO_000300: 1.533593e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.812e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

FS
type: SiteQuality
SIO_000300: 3.68e0

VQSLOD
type: SiteQuality
SIO_000300: 3.31e-1

GenotypeQuality
all individuals: 1367
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.5e0
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GenotypeQuality
all individuals: 79
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variant carriers: 0

GenotypeQuality
all individuals: 1033
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 891
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2317
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547029702970297e-5
allele num: 64640
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14414
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11310
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.62e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.424e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.85e0

MQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

DP
type: SiteQuality
SIO_000300: 1.553458e6

QD
type: SiteQuality
SIO_000300: 1.647e1

GenotypeQuality
all individuals: 50
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1537
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2372
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2164
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4579
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 966
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11298
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.945409084595083e-5
allele num: 14398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64660
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

QD
type: SiteQuality
SIO_000300: 9.48e0

FS
type: SiteQuality
SIO_000300: 2.917e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.19e-1

DP
type: SiteQuality
SIO_000300: 1.563482e6

GenotypeQuality
all individuals: 125
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36307
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4579
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 415
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5438
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543591010125957e-5
allele num: 64784
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11314
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.57242e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.83e0

FS
type: SiteQuality
SIO_000300: 1.784e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.009e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e0

VQSLOD
type: SiteQuality
SIO_000300: 9.27e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

QD
type: SiteQuality
SIO_000300: 1.223e1

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1380
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 252
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41277
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.680542110358181e-5
allele num: 10330
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15108
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65542
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.99e-1

FS
type: SiteQuality
SIO_000300: 3.15e0

DP
type: SiteQuality
SIO_000300: 1.629912e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.07e-1

QD
type: SiteQuality
SIO_000300: 1.248e1

GenotypeQuality
all individuals: 207
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1539
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41445
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4668
bin: 9.75e1
variant carriers: 136

GenotypeQuality
all individuals: 401
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5690
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 5
allele frequency: 4.379817799579537e-4
allele num: 11416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524576167825345e-5
allele num: 65592
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.601531555320834e-5
allele num: 15148
num of homozygotes: 0

African
type: Population
allele count: 131
allele frequency: 1.267660150958003e-2
allele num: 10334
num of homozygotes: 2

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

Other
type: Population
allele count: 1
allele frequency: 1.128668171557562e-3
allele num: 886
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.395e1

VQSLOD
type: SiteQuality
SIO_000300: 5.96e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.976e0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.636155e6

GenotypeQuality
all individuals: 42163
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1557
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1263
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4548
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 955
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15338
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521560512461581e-5
allele num: 65722
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.639899e6

QD
type: SiteQuality
SIO_000300: 1.458e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.707e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.73e-1

FS
type: SiteQuality
SIO_000300: 7.248e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.49e-1

GenotypeQuality
all individuals: 5812
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4547
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 377
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1383
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66016
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.164686699277894e-4
allele num: 8586
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15686
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.276e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.118e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

DP
type: SiteQuality
SIO_000300: 1.652009e6

QD
type: SiteQuality
SIO_000300: 5.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.77e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1394
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 557
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15822
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512218727316719e-5
allele num: 66128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
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: 7.89e-1

DP
type: SiteQuality
SIO_000300: 1.656208e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.19e-1

QD
type: SiteQuality
SIO_000300: 1.43e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.197e0

FS
type: SiteQuality
SIO_000300: 6.207e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.24e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

GenotypeQuality
all individuals: 127
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5860
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1570
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1395
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.022609116189094e-5
allele num: 66168
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15872
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.94e-1

FS
type: SiteQuality
SIO_000300: 2.292e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.44e0

VQSLOD
type: SiteQuality
SIO_000300: 7.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.57e-1

DP
type: SiteQuality
SIO_000300: 1.657617e6

QD
type: SiteQuality
SIO_000300: 1.419e1

GenotypeQuality
all individuals: 952
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4549
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 143
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163602513381429e-4
allele num: 8594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15872
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
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: 1
allele frequency: 1.511304558094547e-5
allele num: 66168
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.657617e6

QD
type: SiteQuality
SIO_000300: 1.419e1

FS
type: SiteQuality
SIO_000300: 2.292e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.44e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 130
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 186
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43716
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15964
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510528382828313e-5
allele num: 66202
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.469e0

MQRankSum
type: SiteQuality
SIO_000300: 4.74e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: -4.537e-1

FS
type: SiteQuality
SIO_000300: 7.463e0

QD
type: SiteQuality
SIO_000300: 9.130000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

DP
type: SiteQuality
SIO_000300: 1.660377e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.82e-1

GenotypeQuality
all individuals: 4547
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 950
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.119202056051891e-5
allele num: 16342
num of homozygotes: 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: 0
allele frequency: 0.0e0
allele num: 66452
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.672344e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.066e1

MQRankSum
type: SiteQuality
SIO_000300: -6.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.344e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5950
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4546
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 557
bin: 9.25e1
variant carriers: 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: 8618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006795357507968e-5
allele num: 66516
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

VQSLOD
type: SiteQuality
SIO_000300: 8.66e-1

FS
type: SiteQuality
SIO_000300: 3.991e0

DP
type: SiteQuality
SIO_000300: 1.674078e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 1.372e1

GenotypeQuality
all individuals: 556
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1574
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4549
bin: 9.75e1
variant carriers: 6

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

GenotypeQuality
all individuals: 956
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5974
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66602
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 6
allele frequency: 3.640334910811795e-4
allele num: 16482
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.07e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.17e0

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.98e-1

FS
type: SiteQuality
SIO_000300: 5.96e-1

DP
type: SiteQuality
SIO_000300: 1.678367e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.331e1

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1409
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45012
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.050672430355427e-4
allele num: 66624
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: 10402
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: 11526
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-2

FS
type: SiteQuality
SIO_000300: 5.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

VQSLOD
type: SiteQuality
SIO_000300: 2.16e0

QD
type: SiteQuality
SIO_000300: 1.379e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.9e-2

DP
type: SiteQuality
SIO_000300: 1.678936e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4548
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 1576
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44985
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
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: 0
allele frequency: 0.0e0
allele num: 66630
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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: 6602
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.622e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

QD
type: SiteQuality
SIO_000300: 1.272e1

DP
type: SiteQuality
SIO_000300: 1.679036e6

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 7.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.081e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.109e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 952
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4548
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1576
bin: 7.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.502476361999099e-5
allele num: 66630
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.109e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-2

QD
type: SiteQuality
SIO_000300: 1.272e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.081e0

FS
type: SiteQuality
SIO_000300: 6.622e0

VQSLOD
type: SiteQuality
SIO_000300: 7.61e-1

DP
type: SiteQuality
SIO_000300: 1.679036e6

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

GenotypeQuality
all individuals: 45002
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 554
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1573
bin: 7.75e1
variant carriers: 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: 11528
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.818402230573403e-4
allele num: 16498
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.501530520376928e-5
allele num: 66644
num of homozygotes: 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: 8630
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.191e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.98e0

VQSLOD
type: SiteQuality
SIO_000300: 8.74e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 6.27e-1

DP
type: SiteQuality
SIO_000300: 1.67975e6

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

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

GenotypeQuality
all individuals: 950
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1405
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 15
allele frequency: 1.300277392510402e-3
allele num: 11536
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: 27
allele frequency: 4.051499054650221e-4
allele num: 66642
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.805843906189927e-4
allele num: 10404
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.325942350332594e-3
allele num: 902
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.367e1

FS
type: SiteQuality
SIO_000300: 5.46e-1

DP
type: SiteQuality
SIO_000300: 1.682443e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
type: SiteQuality
SIO_000300: 4.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.33e-1

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 950
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1565
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6000
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4538
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 552
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 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: 10404
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: 1
allele frequency: 1.514233797698365e-4
allele num: 6604
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.679735e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.485e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.04e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.76e0

VQSLOD
type: SiteQuality
SIO_000300: -7.675e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.15e-1

FS
type: SiteQuality
SIO_000300: 5.402e0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4541
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 45125
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
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: 66694
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: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.07e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

FS
type: SiteQuality
SIO_000300: 6.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.31e-1

QD
type: SiteQuality
SIO_000300: 1.631e1

DP
type: SiteQuality
SIO_000300: 1.680827e6

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

GenotypeQuality
all individuals: 1407
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1561
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4538
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6009
bin: 6.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.680861e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.53e0

VQSLOD
type: SiteQuality
SIO_000300: 7.199999999999999e-2

FS
type: SiteQuality
SIO_000300: 6.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.445e0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.335e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.806e0

GenotypeQuality
all individuals: 53
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1558
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
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: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
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: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.655e0

FS
type: SiteQuality
SIO_000300: 9.24e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

DP
type: SiteQuality
SIO_000300: 1.680973e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.36e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.06e-1

QD
type: SiteQuality
SIO_000300: 1.176e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.58e-1

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6006
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1558
bin: 7.75e1
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: 10404
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -4.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e0

QD
type: SiteQuality
SIO_000300: 1.178e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.556e0

FS
type: SiteQuality
SIO_000300: 5.282e0

DP
type: SiteQuality
SIO_000300: 1.681029e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4539
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1407
bin: 7.25e1
variant carriers: 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: 16508
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: 6610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.324e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.61e-2

FS
type: SiteQuality
SIO_000300: 1.174e0

MQRankSum
type: SiteQuality
SIO_000300: -3.39e-1

QD
type: SiteQuality
SIO_000300: 8.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.14e-1

DP
type: SiteQuality
SIO_000300: 1.681216e6

GenotypeQuality
all individuals: 4539
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 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: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
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: 10400
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.371e1

MQRankSum
type: SiteQuality
SIO_000300: -1.217e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

VQSLOD
type: SiteQuality
SIO_000300: -1.277e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e-1

FS
type: SiteQuality
SIO_000300: 9.999000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.556e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.42e-2

DP
type: SiteQuality
SIO_000300: 1.681259e6

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 553
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variant carriers: 0

GenotypeQuality
all individuals: 1408
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4549
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 944
bin: 8.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 11
allele frequency: 1.27285350613284e-3
allele num: 8642
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 1.752e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.8e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e-2

DP
type: SiteQuality
SIO_000300: 1.682074e6

QD
type: SiteQuality
SIO_000300: 1.278e1

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45143
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
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variant carriers: 0

GenotypeQuality
all individuals: 941
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 552
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variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 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: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 2.848404893259774e-4
allele num: 66704
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: 16508
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.733102253032929e-4
allele num: 11540
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 9.399999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.236e1

VQSLOD
type: SiteQuality
SIO_000300: 5.7e0

DP
type: SiteQuality
SIO_000300: 1.682502e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.68e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

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

GenotypeQuality
all individuals: 1408
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4537
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6006
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
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: 906
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.35e-1

FS
type: SiteQuality
SIO_000300: 1.1033e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e-1

MQ
type: SiteQuality
SIO_000300: 5.935e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.681611e6

QD
type: SiteQuality
SIO_000300: 1.711e1

VQSLOD
type: SiteQuality
SIO_000300: -4.473e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.14e0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
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GenotypeQuality
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bin: 9.75e1
variant carriers: 27

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 407
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GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 45151
bin: 6.25e1
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: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 2.998141152485459e-4
allele num: 66708
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

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

African
type: Population
allele count: 4
allele frequency: 3.845414343395501e-4
allele num: 10402
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.32e1

DP
type: SiteQuality
SIO_000300: 1.683298e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.47e-1

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 11
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1556
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499115521842113e-5
allele num: 66706
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: 16508
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: 11544
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.681846e6

FS
type: SiteQuality
SIO_000300: 3.227e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.03e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.32e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.205e1

GenotypeQuality
all individuals: 1400
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 4531
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GenotypeQuality
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GenotypeQuality
all individuals: 406
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GenotypeQuality
all individuals: 14
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GenotypeQuality
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GenotypeQuality
all individuals: 15
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 553
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

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

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

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

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

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

DP
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
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SIO_000300: 1.05e0

ReadPosRankSum
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SIO_000300: -1.853e0

FS
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 2.42e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.04e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.869e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.439e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.34e-1

BaseQRankSum
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DP
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SIO_000300: 1.681855e6

InbreedingCoeff
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SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.013e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.76e-1

QD
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SIO_000300: 1.436e1

MQ
type: SiteQuality
SIO_000300: 5.981e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 1
allele frequency: 9.645061728395061e-5
allele num: 10368
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.580000000000001e-1

FS
type: SiteQuality
SIO_000300: 5.43e-1

QD
type: SiteQuality
SIO_000300: 1.533e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e-1

DP
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SIO_000300: 1.680518e6

ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e0

MQRankSum
type: SiteQuality
SIO_000300: -5.83e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

European (Finnish)
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allele count: 1
allele frequency: 1.513775355737209e-4
allele num: 6606
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.645061728395061e-5
allele num: 10368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.199904007679386e-4
allele num: 66672
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e-1

DP
type: SiteQuality
SIO_000300: 1.68118e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e-1

QD
type: SiteQuality
SIO_000300: 1.274e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.776e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.42e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.645061728395061e-5
allele num: 10368
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.793e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.81e-1

DP
type: SiteQuality
SIO_000300: 1.680343e6

VQSLOD
type: SiteQuality
SIO_000300: -1.39e0

QD
type: SiteQuality
SIO_000300: 1.13e1

MQ
type: SiteQuality
SIO_000300: 5.929e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.37e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16498
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Other
type: Population
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allele frequency: 0.0e0
allele num: 902
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.75e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.8e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.71e0

BaseQRankSum
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SIO_000300: -1.0e-1

DP
type: SiteQuality
SIO_000300: 1.680322e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.32e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
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: 11546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
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South Asian
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allele count: 0
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allele num: 16496
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DP
type: SiteQuality
SIO_000300: 1.680165e6

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 1.985e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.989e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
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allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
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East Asian
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African
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allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
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allele num: 11546
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VQSLOD
type: SiteQuality
SIO_000300: 9.05e-1

ReadPosRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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allele num: 902
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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allele num: 902
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East Asian
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allele count: 3
allele frequency: 3.472222222222222e-4
allele num: 8640
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South Asian
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Latino
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num of homozygotes: 0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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DP
type: SiteQuality
SIO_000300: 1.679877e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.245e1

MQ
type: SiteQuality
SIO_000300: 5.948e1

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5916
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4529
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1379
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.673026886383348e-5
allele num: 11530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10268
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 6.864e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.845e0

QD
type: SiteQuality
SIO_000300: 1.28e1

VQSLOD
type: SiteQuality
SIO_000300: 3.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.673552e6

GenotypeQuality
all individuals: 44129
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 883
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4530
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 2.75e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10204
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.519161243673174e-5
allele num: 66384
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.36e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

MQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

FS
type: SiteQuality
SIO_000300: 2.818e0

QD
type: SiteQuality
SIO_000300: 1.69e1

DP
type: SiteQuality
SIO_000300: 1.668106e6

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

GenotypeQuality
all individuals: 148
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
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GenotypeQuality
all individuals: 1375
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 402
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variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4556
bin: 9.75e1
variant carriers: 30

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: 29
allele frequency: 4.373397677575026e-4
allele num: 66310
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.188118811881188e-5
allele num: 16160
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10172
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.74e-1

DP
type: SiteQuality
SIO_000300: 1.665239e6

QD
type: SiteQuality
SIO_000300: 1.259e1

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.131e0

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 7.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.51e0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
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variant carriers: 0

GenotypeQuality
all individuals: 48
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GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 548
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 920
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variant carriers: 0

GenotypeQuality
all individuals: 4534
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 43485
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variant carriers: 0

GenotypeQuality
all individuals: 1333
bin: 2.25e1
variant carriers: 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: 8596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66232
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10148
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.225874735400324e-5
allele num: 16062
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.661092e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.504e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.92e0

FS
type: SiteQuality
SIO_000300: 7.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

QD
type: SiteQuality
SIO_000300: 1.055e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4534
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1333
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48
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variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43485
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1368
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 401
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variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.358112314780227e-4
allele num: 16062
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66232
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
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: 894
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10148
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 1.661092e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.055e1

FS
type: SiteQuality
SIO_000300: 7.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.504e0

GenotypeQuality
all individuals: 58
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4527
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 110
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variant carriers: 0

GenotypeQuality
all individuals: 400
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variant carriers: 0

GenotypeQuality
all individuals: 104
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variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 919
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variant carriers: 0

GenotypeQuality
all individuals: 1356
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.69414014953921e-5
allele num: 11502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66090
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10126
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15940
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.186e0

FS
type: SiteQuality
SIO_000300: 2.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.613e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.407e0

QD
type: SiteQuality
SIO_000300: 1.172e1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQ
type: SiteQuality
SIO_000300: 5.881e1

DP
type: SiteQuality
SIO_000300: 1.654104e6

GenotypeQuality
all individuals: 110
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1933
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 4528
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 548
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variant carriers: 0

GenotypeQuality
all individuals: 1352
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variant carriers: 0

GenotypeQuality
all individuals: 143
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variant carriers: 0

GenotypeQuality
all individuals: 400
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variant carriers: 0

GenotypeQuality
all individuals: 65
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variant carriers: 0

GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.260398285858331e-4
allele num: 15868
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65966
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.938e0

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.514e0

QD
type: SiteQuality
SIO_000300: 1.303e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.94e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-1

DP
type: SiteQuality
SIO_000300: 1.648878e6

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 7.5e0
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GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
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GenotypeQuality
all individuals: 143
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variant carriers: 0

GenotypeQuality
all individuals: 42541
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5740
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 311
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 9.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15868
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65966
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.703220191470844e-5
allele num: 11490
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.303e1

DP
type: SiteQuality
SIO_000300: 1.648878e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e-1

FS
type: SiteQuality
SIO_000300: 6.938e0

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.514e0

MQRankSum
type: SiteQuality
SIO_000300: 2.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

GenotypeQuality
all individuals: 160
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5725
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 4.75e1
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GenotypeQuality
all individuals: 142
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42266
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 914
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2100
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4526
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 1
allele frequency: 6.321911746112024e-5
allele num: 15818
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65894
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10098
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.775e0

MQRankSum
type: SiteQuality
SIO_000300: 2.61e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.625e0

QD
type: SiteQuality
SIO_000300: 1.205e1

DP
type: SiteQuality
SIO_000300: 1.645647e6

VQSLOD
type: SiteQuality
SIO_000300: -3.46e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
all individuals: 1498
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 428
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GenotypeQuality
all individuals: 5698
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GenotypeQuality
all individuals: 2395
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 94
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variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521005080156968e-5
allele num: 65746
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.271294177472667e-4
allele num: 15732
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.956e1