1-201047000-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047000
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047000
    reference: chr 1
allele count: 1
allele frequency: 8.769929665164086e-6
allele num: 114026
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1619+7G>A
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1619+7G>A
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36586
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  variant carriers: 0
hgvs: c.1619+7G>A
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6032
  num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP

1-201047003-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047003
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047003
    reference: chr 1
allele count: 1
allele frequency: 8.655610566769381e-6
allele num: 115532
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1619+4A>C
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1619+4A>C
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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hgvs: c.1619+4A>C
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11334
  num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

1-201047015-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047015
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047015
    reference: chr 1
allele count: 2
allele frequency: 1.694656747275839e-5
allele num: 118018
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1611G>A
  hgvsp: ENST00000367338.3:c.1611G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1611G>A
  hgvsp: ENST00000362061.3:c.1611G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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hgvs: p.Lys537Lys
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11446
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-201047019-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047019
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047019
    reference: chr 1
allele count: 1
allele frequency: 8.435686327439601e-6
allele num: 118544
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1607T>G
  hgvsp: ENSP00000356307.3:p.Phe536Cys
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1607T>G
  hgvsp: ENSP00000355192.3:p.Phe536Cys
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
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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hgvs: p.Phe536Cys
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 878
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-201047024-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047024
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047024
    reference: chr 1
allele count: 1
allele frequency: 8.400537634408602e-6
allele num: 119040
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1602G>A
  hgvsp: ENST00000367338.3:c.1602G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1602G>A
  hgvsp: ENST00000362061.3:c.1602G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  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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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg534Arg
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 884
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

1-201047034-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047034
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047034
    reference: chr 1
allele count: 12
allele frequency: 1.00035012254289e-4
allele num: 119958
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1592G>A
  hgvsp: ENSP00000355192.3:p.Arg531His
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1592G>A
  hgvsp: ENSP00000356307.3:p.Arg531His
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4869
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg531His
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6538
  num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

1-201047035-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047035
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047035
    reference: chr 1
allele count: 8
allele frequency: 6.654909659601372e-5
allele num: 120212
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1591C>T
  hgvsp: ENSP00000355192.3:p.Arg531Cys
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1591C>T
  hgvsp: ENSP00000356307.3:p.Arg531Cys
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 3
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 quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 114
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  variant carriers: 0
hgvs: p.Arg531Cys
num of homozygotes: 1
population: South Asian
  type: Population
  allele count: 7
  allele frequency: 4.25480184779966e-4
  allele num: 16452
  num of homozygotes: 1
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-201047039-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047039
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047039
    reference: chr 1
allele count: 1
allele frequency: 8.302062232258493e-6
allele num: 120452
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1587C>T
  hgvsp: ENST00000367338.3:c.1587C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1587C>T
  hgvsp: ENST00000362061.3:c.1587C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 3.25e1
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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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  bin: 7.75e1
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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
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Cys529Cys
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6574
  num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

1-201047039-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047039
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047039
    reference: chr 1
allele count: 1
allele frequency: 8.302062232258493e-6
allele num: 120452
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1587C>G
  hgvsp: ENSP00000355192.3:p.Cys529Trp
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1587C>G
  hgvsp: ENSP00000356307.3:p.Cys529Trp
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
hgvs: p.Cys529Trp
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16472
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-201047040-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047040
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047040
    reference: chr 1
allele count: 2
allele frequency: 1.659999004000598e-5
allele num: 120482
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1586G>T
  hgvsp: ENSP00000355192.3:p.Cys529Phe
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1586G>T
  hgvsp: ENSP00000356307.3:p.Cys529Phe
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype 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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hgvs: p.Cys529Phe
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10268
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

1-201047044-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047044
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047044
    reference: chr 1
allele count: 2
allele frequency: 1.65708320214758e-5
allele num: 120694
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1582C>T
  hgvsp: ENSP00000356307.3:p.Arg528Cys
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1582C>T
  hgvsp: ENSP00000355192.3:p.Arg528Cys
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Arg528Cys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD

1-201047047-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047047
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047047
    reference: chr 1
allele count: 1
allele frequency: 8.280064915708939e-6
allele num: 120772
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1579C>T
  hgvsp: ENSP00000355192.3:p.Leu527Phe
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1579C>T
  hgvsp: ENSP00000356307.3:p.Leu527Phe
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Leu527Phe
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10318
  num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP

1-201047050-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047050
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047050
    reference: chr 1
allele count: 1
allele frequency: 8.274857672448034e-6
allele num: 120848
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1576G>A
  hgvsp: ENSP00000356307.3:p.Val526Met
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1576G>A
  hgvsp: ENSP00000355192.3:p.Val526Met
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2999
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2442
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39367
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8178
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val526Met
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.159285879897983e-4
  allele num: 8626
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD

1-201047051-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047051
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047051
    reference: chr 1
allele count: 1
allele frequency: 8.271572260455268e-6
allele num: 120896
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1575C>T
  hgvsp: ENST00000362061.3:c.1575C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1575C>T
  hgvsp: ENST00000367338.3:c.1575C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2994
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3550
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8181
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser525Ser
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16498
  num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

1-201047051-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047051
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047051
    reference: chr 1
allele count: 1
allele frequency: 8.271572260455268e-6
allele num: 120896
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1575C>G
  hgvsp: ENST00000367338.3:c.1575C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1575C>G
  hgvsp: ENST00000362061.3:c.1575C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser525Ser
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16498
  num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

1-201047055-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047055
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047055
    reference: chr 1
allele count: 1
allele frequency: 8.265145879824779e-6
allele num: 120990
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1571T>C
  hgvsp: ENSP00000356307.3:p.Ile524Thr
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1571T>C
  hgvsp: ENSP00000355192.3:p.Ile524Thr
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5144
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile524Thr
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.505208019748329e-5
  allele num: 66436
  num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-201047062-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047062
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047062
    reference: chr 1
allele count: 25099
allele frequency: 2.072173970476537e-1
allele num: 121124
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1564C>T
  hgvsp: ENST00000367338.3:c.1564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1564C>T
  hgvsp: ENST00000362061.3:c.1564C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8385
  bin: 2.75e1
  variant carriers: 250
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2074
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  variant carriers: 2032
genotype depth: GenotypeDepth
  all individuals: 1395
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  variant carriers: 1122
genotype depth: GenotypeDepth
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  variant carriers: 844
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
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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: 809
genotype depth: GenotypeDepth
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  variant carriers: 2993
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 7.25e1
  variant carriers: 1956
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 5.75e1
  variant carriers: 2006
genotype depth: GenotypeDepth
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  variant carriers: 1110
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 16
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: 27
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 21
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: 41
  bin: 4.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1505
  bin: 8.25e1
  variant carriers: 34
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 7.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 3
hgvs: p.Leu522Leu
num of homozygotes: 2934
population: Latino
  type: Population
  allele count: 3175
  allele frequency: 2.747490481135341e-1
  allele num: 11556
  num of homozygotes: 441
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

1-201047063-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047063
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047063
    reference: chr 1
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1563C>A
  hgvsp: ENST00000367338.3:c.1563C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1563C>A
  hgvsp: ENST00000362061.3:c.1563C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8484
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25684
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25497
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1996
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21158
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5361
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2498
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro521Pro
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP

1-201047065-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047065
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047065
    reference: chr 1
allele count: 1
allele frequency: 8.25218682950982e-6
allele num: 121180
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1561C>G
  hgvsp: ENSP00000355192.3:p.Pro521Ala
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1561C>G
  hgvsp: ENSP00000356307.3:p.Pro521Ala
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1854
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21162
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5365
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro521Ala
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.059871530723549e-5
  allele num: 16502
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-201047069-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047069
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047069
    reference: chr 1
allele count: 3
allele frequency: 2.475043313257982e-5
allele num: 121210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1557G>A
  hgvsp: ENSP00000356307.3:p.Met519Ile
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1557G>A
  hgvsp: ENSP00000355192.3:p.Met519Ile
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2207
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1242
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genotype depth: GenotypeDepth
  all individuals: 927
  bin: 8.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2005
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Met519Ile
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 3
  allele frequency: 2.592912705272256e-4
  allele num: 11570
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-201047074-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047074
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047074
    reference: chr 1
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1552G>T
  hgvsp: ENSP00000356307.3:p.Ala518Ser
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1552G>T
  hgvsp: ENSP00000355192.3:p.Ala518Ser
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 95
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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: 21191
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
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genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala518Ser
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.501681883709755e-5
  allele num: 66592
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

1-201047074-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047074
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047074
    reference: chr 1
allele count: 2
allele frequency: 1.649919978881024e-5
allele num: 121218
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1552G>A
  hgvsp: ENSP00000356307.3:p.Ala518Thr
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1552G>A
  hgvsp: ENSP00000355192.3:p.Ala518Thr
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8552
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25567
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5343
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25362
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21191
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2006
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2519
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala518Thr
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11570
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

1-201047075-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047075
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047075
    reference: chr 1
allele count: 70806
allele frequency: 5.839284830691583e-1
allele num: 121258
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1551T>C
  hgvsp: ENST00000362061.3:c.1551T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1551T>C
  hgvsp: ENST00000367338.3:c.1551T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4480
  bin: 5.75e1
  variant carriers: 4458
genotype depth: GenotypeDepth
  all individuals: 4128
  bin: 5.25e1
  variant carriers: 4102
genotype depth: GenotypeDepth
  all individuals: 8660
  bin: 2.25e1
  variant carriers: 230
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 3339
  bin: 4.75e1
  variant carriers: 3310
genotype depth: GenotypeDepth
  all individuals: 3262
  bin: 2.75e1
  variant carriers: 532
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 4.25e1
  variant carriers: 2604
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 8.75e1
  variant carriers: 2233
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 3.75e1
  variant carriers: 1686
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4409
  bin: 6.75e1
  variant carriers: 4394
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 3.25e1
  variant carriers: 1044
genotype depth: GenotypeDepth
  all individuals: 4644
  bin: 6.25e1
  variant carriers: 4629
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 9.25e1
  variant carriers: 1771
genotype depth: GenotypeDepth
  all individuals: 4004
  bin: 7.25e1
  variant carriers: 3992
genotype depth: GenotypeDepth
  all individuals: 3489
  bin: 7.75e1
  variant carriers: 3476
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 8.25e1
  variant carriers: 2984
genotype depth: GenotypeDepth
  all individuals: 6611
  bin: 9.75e1
  variant carriers: 6596
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 6.75e1
  variant carriers: 98
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 8935
  bin: 6.25e1
  variant carriers: 78
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 36
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 8.25e1
  variant carriers: 203
genotype quality: GenotypeQuality
  all individuals: 47159
  bin: 9.75e1
  variant carriers: 46952
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 7.75e1
  variant carriers: 128
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 7.25e1
  variant carriers: 94
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 9.25e1
  variant carriers: 258
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 8.75e1
  variant carriers: 142
hgvs: p.Gly517Gly
num of homozygotes: 22620
population: European (Non-Finnish)
  type: Population
  allele count: 43681
  allele frequency: 6.553001890245732e-1
  allele num: 66658
  num of homozygotes: 14306
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-201047078-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047078
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047078
    reference: chr 1
allele count: 1140
allele frequency: 9.394004317945844e-3
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1548G>A
  hgvsp: ENST00000367338.3:c.1548G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1548G>A
  hgvsp: ENST00000362061.3:c.1548G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 8.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 3.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 5461
  bin: 3.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 7.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 3592
  bin: 5.75e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7497
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 9.75e1
  variant carriers: 226
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9563
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  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 4.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 3576
  bin: 6.25e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 1974
  bin: 8.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 9.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 4.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 3599
  bin: 5.25e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 6.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 7.75e1
  variant carriers: 75
genotype quality: GenotypeQuality
  all individuals: 3832
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2086
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13813
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1509
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genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35217
  bin: 9.75e1
  variant carriers: 1099
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser516Ser
num of homozygotes: 39
population: Other
  type: Population
  allele count: 7
  allele frequency: 7.709251101321586e-3
  allele num: 908
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

1-201047079-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047079
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047079
    reference: chr 1
allele count: 220
allele frequency: 1.812878026270251e-3
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1547C>T
  hgvsp: ENSP00000356307.3:p.Ser516Leu
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1547C>T
  hgvsp: ENSP00000355192.3:p.Ser516Leu
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5596
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 6.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 4.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3554
  bin: 5.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 3404
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  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 3570
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 7724
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 6.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3939
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34699
  bin: 9.75e1
  variant carriers: 217
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14103
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser516Leu
num of homozygotes: 3
population: European (Finnish)
  type: Population
  allele count: 82
  allele frequency: 1.239794375566979e-2
  allele num: 6614
  num of homozygotes: 3
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

1-201047079-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047079
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047079
    reference: chr 1
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1547C>G
  hgvsp: ENSP00000355192.3:p.Ser516Trp
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1547C>G
  hgvsp: ENSP00000356307.3:p.Ser516Trp
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2255
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34699
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3939
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser516Trp
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum

1-201047082-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047082
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047082
    reference: chr 1
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1544A>G
  hgvsp: ENSP00000355192.3:p.Glu515Gly
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1544A>G
  hgvsp: ENSP00000356307.3:p.Glu515Gly
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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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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  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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  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14151
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu515Gly
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8646
  num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

1-201047083-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047083
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047083
    reference: chr 1
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1543G>A
  hgvsp: ENSP00000355192.3:p.Glu515Lys
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1543G>A
  hgvsp: ENSP00000356307.3:p.Glu515Lys
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5596
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3510
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 2752
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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: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 14155
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu515Lys
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum

1-201047093-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047093
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047093
    reference: chr 1
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1533C>A
  hgvsp: ENST00000362061.3:c.1533C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1533C>A
  hgvsp: ENST00000367338.3:c.1533C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7771
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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 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
  all individuals: 1762
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile511Ile
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66698
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

1-201047095-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047095
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047095
    reference: chr 1
allele count: 2
allele frequency: 1.647989452867502e-5
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1531A>C
  hgvsp: ENSP00000355192.3:p.Ile511Leu
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1531A>C
  hgvsp: ENSP00000356307.3:p.Ile511Leu
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 7.75e1
  variant carriers: 0
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
hgvs: p.Ile511Leu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8648
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/1-201047096-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047096
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047096
    reference: chr 1
allele count: 4
allele frequency: 3.296033224014898e-5
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1530G>T
  hgvsp: ENSP00000356307.3:p.Glu510Asp
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1530G>T
  hgvsp: ENSP00000355192.3:p.Glu510Asp
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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hgvs: p.Glu510Asp
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66696
  num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-201047100-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047100
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047100
    reference: chr 1
allele count: 6
allele frequency: 4.943805411818991e-5
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1526T>C
  hgvsp: ENSP00000356307.3:p.Leu509Pro
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1526T>C
  hgvsp: ENSP00000355192.3:p.Leu509Pro
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7786
  bin: 2.75e1
  variant carriers: 0
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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hgvs: p.Leu509Pro
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8650
  num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum

1-201047101-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047101
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047101
    reference: chr 1
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1525C>T
  hgvsp: ENST00000362061.3:c.1525C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1525C>T
  hgvsp: ENST00000367338.3:c.1525C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 1548
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hgvs: p.Leu509Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff

1-201047107-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047107
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047107
    reference: chr 1
allele count: 4
allele frequency: 3.295870274545994e-5
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1519G>A
  hgvsp: ENSP00000355192.3:p.Gly507Ser
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1519G>A
  hgvsp: ENSP00000356307.3:p.Gly507Ser
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 4323
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3556
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34668
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2132
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1767
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3949
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly507Ser
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 3
  allele frequency: 1.816860465116279e-4
  allele num: 16512
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-201047108-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047108
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047108
    reference: chr 1
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1518C>T
  hgvsp: ENST00000362061.3:c.1518C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1518C>T
  hgvsp: ENST00000367338.3:c.1518C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3577
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1934
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  variant carriers: 1
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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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 7
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 15
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser506Ser
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.499295331194339e-5
  allele num: 66698
  num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ

1-201047111-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047111
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047111
    reference: chr 1
allele count: 29719
allele frequency: 2.448951002851163e-1
allele num: 121354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1515T>C
  hgvsp: ENST00000367338.3:c.1515T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1515T>C
  hgvsp: ENST00000362061.3:c.1515T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 4.25e1
  variant carriers: 532
genotype depth: GenotypeDepth
  all individuals: 1946
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  variant carriers: 1457
genotype depth: GenotypeDepth
  all individuals: 9725
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  variant carriers: 7618
genotype depth: GenotypeDepth
  all individuals: 2716
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  variant carriers: 1989
genotype depth: GenotypeDepth
  all individuals: 14
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  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 6.25e1
  variant carriers: 1764
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 90
genotype depth: GenotypeDepth
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  variant carriers: 154
genotype depth: GenotypeDepth
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  variant carriers: 1147
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 7.75e1
  variant carriers: 1953
genotype depth: GenotypeDepth
  all individuals: 9442
  bin: 2.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 1679
genotype depth: GenotypeDepth
  all individuals: 1938
  bin: 4.75e1
  variant carriers: 841
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 3.75e1
  variant carriers: 301
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 5.75e1
  variant carriers: 1491
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 7.25e1
  variant carriers: 2061
genotype depth: GenotypeDepth
  all individuals: 2805
  bin: 6.75e1
  variant carriers: 1867
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 8.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 13921
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 10
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7
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genotype quality: GenotypeQuality
  all individuals: 1837
  bin: 7.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 14
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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: 31
genotype quality: GenotypeQuality
  all individuals: 21
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  variant carriers: 11
hgvs: p.Cys505Cys
num of homozygotes: 4682
population: Latino
  type: Population
  allele count: 1384
  allele frequency: 1.196197061365601e-1
  allele num: 11570
  num of homozygotes: 105
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

1-201047114-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047114
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047114
    reference: chr 1
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1512G>A
  hgvsp: ENST00000362061.3:c.1512G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1512G>A
  hgvsp: ENST00000367338.3:c.1512G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10498
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10760
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3797
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1593
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 19975
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2756
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val504Val
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10404
  num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/1-201047116-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047116
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047116
    reference: chr 1
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1510G>T
  hgvsp: ENSP00000355192.3:p.Val504Leu
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1510G>T
  hgvsp: ENSP00000356307.3:p.Val504Leu
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 7.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2949
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19975
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2758
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val504Leu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10404
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum

1-201047118-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047118
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047118
    reference: chr 1
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1508T>C
  hgvsp: ENSP00000355192.3:p.Val503Ala
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1508T>C
  hgvsp: ENSP00000356307.3:p.Val503Ala
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14148
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 1591
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
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genotype depth: GenotypeDepth
  all individuals: 10772
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1084
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
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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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  bin: 1.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2949
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genotype quality: GenotypeQuality
  all individuals: 19973
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genotype quality: GenotypeQuality
  all individuals: 17
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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: 20956
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val503Ala
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10404
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

1-201047119-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047119
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047119
    reference: chr 1
allele count: 3
allele frequency: 2.471413978317461e-5
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1507G>A
  hgvsp: ENSP00000355192.3:p.Val503Met
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1507G>A
  hgvsp: ENSP00000356307.3:p.Val503Met
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1466
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 39
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
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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: 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
  all individuals: 3800
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2949
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val503Met
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 3
  allele frequency: 4.496133325340207e-5
  allele num: 66724
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

1-201047120-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047120
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047120
    reference: chr 1
allele count: 19
allele frequency: 1.565228852934392e-4
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1506C>T
  hgvsp: ENST00000362061.3:c.1506C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1506C>T
  hgvsp: ENST00000367338.3:c.1506C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10499
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
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  variant carriers: 2
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
  all individuals: 1363
  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1591
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 4.25e1
  variant carriers: 1
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: 6826
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  variant carriers: 0
hgvs: p.Phe502Phe
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

1-201047123-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047123
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047123
    reference: chr 1
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1503C>T
  hgvsp: ENST00000367338.3:c.1503C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1503C>T
  hgvsp: ENST00000362061.3:c.1503C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 7.25e1
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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
  all individuals: 2761
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2949
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Cys501Cys
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8650
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/1-201047124-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047124
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047124
    reference: chr 1
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1502G>T
  hgvsp: ENSP00000355192.3:p.Cys501Phe
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1502G>T
  hgvsp: ENSP00000356307.3:p.Cys501Phe
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3034
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Cys501Phe
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

1-201047126-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047126
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047126
    reference: chr 1
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1500C>T
  hgvsp: ENST00000362061.3:c.1500C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1500C>T
  hgvsp: ENST00000367338.3:c.1500C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype 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
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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: 19970
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  variant carriers: 1
hgvs: p.Asp500Asp
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10406
  num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD

1-201047132-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047132
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047132
    reference: chr 1
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1494C>T
  hgvsp: ENST00000362061.3:c.1494C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1494C>T
  hgvsp: ENST00000367338.3:c.1494C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 6.25e1
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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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hgvs: p.Arg498Arg
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10406
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/1-201047133-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047133
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047133
    reference: chr 1
allele count: 83
allele frequency: 6.837240720299191e-4
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1493G>T
  hgvsp: ENSP00000356307.3:p.Arg498Leu
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1493G>T
  hgvsp: ENSP00000355192.3:p.Arg498Leu
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg498Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 8
  allele frequency: 6.909656244601831e-4
  allele num: 11578
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

1-201047133-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047133
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047133
    reference: chr 1
allele count: 29
allele frequency: 2.388915432393693e-4
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1493G>A
  hgvsp: ENSP00000355192.3:p.Arg498His
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1493G>A
  hgvsp: ENSP00000356307.3:p.Arg498His
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3831
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  variant carriers: 18
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 5203
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  variant carriers: 1
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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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
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  variant carriers: 4
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: 29
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6830
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg498His
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 2
  allele frequency: 1.727414061150458e-4
  allele num: 11578
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

1-201047134-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047134
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047134
    reference: chr 1
allele count: 3
allele frequency: 2.471291826614165e-5
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1492C>T
  hgvsp: ENSP00000356307.3:p.Arg498Cys
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1492C>T
  hgvsp: ENSP00000355192.3:p.Arg498Cys
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3039
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10530
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1251
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
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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
  all individuals: 1584
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 1161
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  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg498Cys
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.056201550387597e-5
  allele num: 16512
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

1-201047135-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047135
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047135
    reference: chr 1
allele count: 10292
allele frequency: 8.479854988876988e-2
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1491C>T
  hgvsp: ENST00000367338.3:c.1491C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1491C>T
  hgvsp: ENST00000362061.3:c.1491C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14129
  bin: 2.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 912
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  variant carriers: 418
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
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  variant carriers: 456
genotype depth: GenotypeDepth
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  variant carriers: 269
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 depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6
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  variant carriers: 0
hgvs: p.Asn497Asn
num of homozygotes: 561
population: South Asian
  type: Population
  allele count: 979
  allele frequency: 5.929021317829457e-2
  allele num: 16512
  num of homozygotes: 29
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

1-201047137-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047137
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047137
    reference: chr 1
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1489A>T
  hgvsp: ENSP00000355192.3:p.Asn497Tyr
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1489A>T
  hgvsp: ENSP00000356307.3:p.Asn497Tyr
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 13222
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asn497Tyr
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66726
  num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum

1-201047149-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047149
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047149
    reference: chr 1
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1477A>C
  hgvsp: ENSP00000355192.3:p.Met493Leu
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1477A>C
  hgvsp: ENSP00000356307.3:p.Met493Leu
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6112
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3469
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13222
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 8085
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2298
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met493Leu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

1-201047154-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047154
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047154
    reference: chr 1
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1472A>G
  hgvsp: ENSP00000355192.3:p.Tyr491Cys
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1472A>G
  hgvsp: ENSP00000356307.3:p.Tyr491Cys
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4466
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 8086
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Tyr491Cys
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

1-201047156-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047156
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047156
    reference: chr 1
allele count: 15
allele frequency: 1.2356255560315e-4
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1470G>A
  hgvsp: ENST00000362061.3:c.1470G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1470G>A
  hgvsp: ENST00000367338.3:c.1470G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12768
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 458
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 4466
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln490Gln
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

1-201047160-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047160
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047160
    reference: chr 1
allele count: 13
allele frequency: 1.070857839503122e-4
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1466G>A
  hgvsp: ENSP00000356307.3:p.Arg489His
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1466G>A
  hgvsp: ENSP00000355192.3:p.Arg489His
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4466
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg489His
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10406
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

1-201047161-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047161
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047161
    reference: chr 1
allele count: 13
allele frequency: 1.070857839503122e-4
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1465C>T
  hgvsp: ENSP00000356307.3:p.Arg489Cys
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1465C>T
  hgvsp: ENSP00000355192.3:p.Arg489Cys
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 458
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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
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genotype quality: GenotypeQuality
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  variant carriers: 13
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: 4467
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg489Cys
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 7
  allele frequency: 1.049003446725611e-4
  allele num: 66730
  num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

1-201047165-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047165
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047165
    reference: chr 1
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1461C>A
  hgvsp: ENST00000367338.3:c.1461C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1461C>A
  hgvsp: ENST00000362061.3:c.1461C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
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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 depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly487Gly
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-201047168-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047168
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047168
    reference: chr 1
allele count: 11
allele frequency: 9.060955518945634e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1458G>A
  hgvsp: ENST00000362061.3:c.1458G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1458G>A
  hgvsp: ENST00000367338.3:c.1458G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
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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 depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 541
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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: 3472
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hgvs: p.Leu486Leu
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-201047171-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047171
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047171
    reference: chr 1
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1455G>T
  hgvsp: ENST00000367338.3:c.1455G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1455G>T
  hgvsp: ENST00000362061.3:c.1455G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
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genotype depth: GenotypeDepth
  all individuals: 2187
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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
  all individuals: 3473
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  variant carriers: 0
hgvs: p.Gly485Gly
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

1-201047173-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047173
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047173
    reference: chr 1
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1453G>C
  hgvsp: ENSP00000355192.3:p.Gly485Arg
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1453G>C
  hgvsp: ENSP00000356307.3:p.Gly485Arg
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 3247
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24279
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly485Arg
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.498531439189594e-5
  allele num: 66732
  num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

1-201047173-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047173
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047173
    reference: chr 1
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1453G>A
  hgvsp: ENSP00000355192.3:p.Gly485Arg
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1453G>A
  hgvsp: ENSP00000356307.3:p.Gly485Arg
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
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genotype depth: GenotypeDepth
  all individuals: 3287
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 11405
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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
  all individuals: 2188
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
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genotype depth: GenotypeDepth
  all individuals: 1961
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 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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  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 614
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genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2297
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly485Arg
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

1-201047174-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047174
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047174
    reference: chr 1
allele count: 144
allele frequency: 1.186141908700021e-3
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1452C>T
  hgvsp: ENST00000362061.3:c.1452C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1452C>T
  hgvsp: ENST00000367338.3:c.1452C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 424
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  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2251
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  variant carriers: 94
genotype depth: GenotypeDepth
  all individuals: 1235
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
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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: 1
genotype depth: GenotypeDepth
  all individuals: 451
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  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 460
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genotype depth: GenotypeDepth
  all individuals: 532
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  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1949
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3246
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 144
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4
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hgvs: p.Tyr484Tyr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 20
  allele frequency: 1.211240310077519e-3
  allele num: 16512
  num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/1-201047189-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047189
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047189
    reference: chr 1
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1437G>T
  hgvsp: ENSP00000356307.3:p.Met479Ile
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1437G>T
  hgvsp: ENSP00000355192.3:p.Met479Ile
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
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genotype depth: GenotypeDepth
  all individuals: 1235
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 10
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genotype depth: GenotypeDepth
  all individuals: 11411
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genotype depth: GenotypeDepth
  all individuals: 2161
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genotype depth: GenotypeDepth
  all individuals: 740
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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
  all individuals: 471
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2303
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hgvs: p.Met479Ile
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11576
  num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

1-201047193-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047193
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047193
    reference: chr 1
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1433A>C
  hgvsp: ENSP00000356307.3:p.Glu478Ala
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1433A>C
  hgvsp: ENSP00000355192.3:p.Glu478Ala
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 740
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genotype depth: GenotypeDepth
  all individuals: 471
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genotype depth: GenotypeDepth
  all individuals: 11412
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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
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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: 3
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genotype quality: GenotypeQuality
  all individuals: 13093
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu478Ala
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.4983967155144e-5
  allele num: 66738
  num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

1-201047215-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047215
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047215
    reference: chr 1
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1411C>A
  hgvsp: ENSP00000356307.3:p.Leu471Met
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1411C>A
  hgvsp: ENSP00000355192.3:p.Leu471Met
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
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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
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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
hgvs: p.Leu471Met
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11572
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-201047220-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047220
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047220
    reference: chr 1
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1406G>T
  hgvsp: ENSP00000355192.3:p.Arg469Leu
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1406G>T
  hgvsp: ENSP00000356307.3:p.Arg469Leu
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype 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: 1
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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hgvs: p.Arg469Leu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.056201550387597e-5
  allele num: 16512
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

1-201047220-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047220
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047220
    reference: chr 1
allele count: 4
allele frequency: 3.295110056675893e-5
allele num: 121392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1406G>A
  hgvsp: ENSP00000356307.3:p.Arg469Gln
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1406G>A
  hgvsp: ENSP00000355192.3:p.Arg469Gln
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11400
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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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hgvs: p.Arg469Gln
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6608
  num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-201047221-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047221
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047221
    reference: chr 1
allele count: 4
allele frequency: 3.295164346321773e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1405C>T
  hgvsp: ENSP00000355192.3:p.Arg469Trp
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1405C>T
  hgvsp: ENSP00000356307.3:p.Arg469Trp
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13092
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3478
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg469Trp
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 2
  allele frequency: 2.31107002542177e-4
  allele num: 8654
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

1-201047221-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047221
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047221
    reference: chr 1
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1405C>G
  hgvsp: ENSP00000356307.3:p.Arg469Gly
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1405C>G
  hgvsp: ENSP00000355192.3:p.Arg469Gly
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17112
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2300
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4471
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg469Gly
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6608
  num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

1-201047223-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047223
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047223
    reference: chr 1
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1403A>T
  hgvsp: ENSP00000356307.3:p.Asn468Ile
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1403A>T
  hgvsp: ENSP00000355192.3:p.Asn468Ile
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11404
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6116
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13088
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  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3235
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn468Ile
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11570
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

1-201047228-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047228
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047228
    reference: chr 1
allele count: 8
allele frequency: 6.590871642774756e-5
allele num: 121380
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1398T>C
  hgvsp: ENST00000362061.3:c.1398T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1398T>C
  hgvsp: ENST00000367338.3:c.1398T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 444
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1235
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12781
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1949
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4468
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile466Ile
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 8
  allele frequency: 1.198897014746433e-4
  allele num: 66728
  num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

1-201047230-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047230
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047230
    reference: chr 1
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1396A>T
  hgvsp: ENSP00000355192.3:p.Ile466Phe
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1396A>T
  hgvsp: ENSP00000356307.3:p.Ile466Phe
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 443
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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
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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: 22
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile466Phe
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

1-201047231-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047231
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047231
    reference: chr 1
allele count: 62
allele frequency: 5.108598925546291e-4
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1395C>T
  hgvsp: ENST00000367338.3:c.1395C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1395C>T
  hgvsp: ENST00000362061.3:c.1395C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3297
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8072
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2297
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3468
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13133
  bin: 9.75e1
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4464
  bin: 7.75e1
  variant carriers: 0
hgvs: c.1395C>T
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

1-201047240-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047240
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047240
    reference: chr 1
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1394-8C>T
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1394-8C>T
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13080
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3467
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1394-8C>T
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6594
  num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

1-201047240-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047240
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047240
    reference: chr 1
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1394-8C>A
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1394-8C>A
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17040
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4458
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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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: 2301
  bin: 9.25e1
  variant carriers: 0
hgvs: c.1394-8C>A
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10402
  num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

1-201047246-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047246
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047246
    reference: chr 1
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1394-14C>T
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1394-14C>T
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 2299
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  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 906
  num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

1-201047247-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047247
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047247
    reference: chr 1
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1394-15C>T
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1394-15C>T
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
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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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  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4428
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 3192
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6584
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

1-201047255-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 201047255
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 201047255
    reference: chr 1
allele count: 2
allele frequency: 1.650437365901964e-5
allele num: 121180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000356307
  ensembl transcript: ENST00000367338
  gene symbol: CACNA1S
  hgvsc: ENST00000367338.3:c.1394-23G>A
  variant of: http://identifiers.org/hgnc/1397
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000081248
  ensembl protein: ENSP00000355192
  ensembl transcript: ENST00000362061
  gene symbol: CACNA1S
  hgvsc: ENST00000362061.3:c.1394-23G>A
  variant of: http://identifiers.org/hgnc/1397
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12138
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3266
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4392
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7771
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8644
  num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62534
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.480881399870383e-5
allele num: 15430
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.003e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.01e-1

QD
type: SiteQuality
SIO_000300: 7.2e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.379233e6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63274
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15760
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9592
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.624431448992852e-4
allele num: 6156
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.04e-1

DP
type: SiteQuality
SIO_000300: 1.399915e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.619999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 2.53e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.38e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.245e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.092911047878263e-5
allele num: 64664
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6354
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9904
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: 870
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.957e0

QD
type: SiteQuality
SIO_000300: 1.072e1

DP
type: SiteQuality
SIO_000300: 1.435446e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.41e-1

FS
type: SiteQuality
SIO_000300: 1.862e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.48e-1

East Asian
type: Population
allele count: 1
allele frequency: 1.16144018583043e-4
allele num: 8610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64954
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9962
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.38e0

MQRankSum
type: SiteQuality
SIO_000300: -6.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

QD
type: SiteQuality
SIO_000300: 1.432e1

VQSLOD
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.443416e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.249e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16340
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6440
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10026
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.45103e6

VQSLOD
type: SiteQuality
SIO_000300: 4.58e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.217e1

MQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.185e0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10156
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.823985408116735e-4
allele num: 65790
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.01e0

QD
type: SiteQuality
SIO_000300: 8.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-2

FS
type: SiteQuality
SIO_000300: 3.033e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -5.73e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.34e-1

DP
type: SiteQuality
SIO_000300: 1.466253e6

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516162290011523e-5
allele num: 65956
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 4.883e0

QD
type: SiteQuality
SIO_000300: 1.718e1

VQSLOD
type: SiteQuality
SIO_000300: -6.2e-1

DP
type: SiteQuality
SIO_000300: 1.47031e6

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.005e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-2

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

African
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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: 8624
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51290508033526e-5
allele num: 66098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.76e0

VQSLOD
type: SiteQuality
SIO_000300: 4.16e-1

FS
type: SiteQuality
SIO_000300: 6.495e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.21e-1

DP
type: SiteQuality
SIO_000300: 1.47364e6

QD
type: SiteQuality
SIO_000300: 1.012e1

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.15e-1

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.752291788570315e-5
allele num: 10254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66098
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

FS
type: SiteQuality
SIO_000300: 6.495e0

DP
type: SiteQuality
SIO_000300: 1.47364e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

QD
type: SiteQuality
SIO_000300: 1.012e1

VQSLOD
type: SiteQuality
SIO_000300: 4.16e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.76e0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.734304543877905e-4
allele num: 11532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66108
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

QD
type: SiteQuality
SIO_000300: 1.015e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.594e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.55e-1

FS
type: SiteQuality
SIO_000300: 3.155e0

DP
type: SiteQuality
SIO_000300: 1.474728e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.45e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.019688368160406e-5
allele num: 66232
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.14e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

FS
type: SiteQuality
SIO_000300: 6.776e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

DP
type: SiteQuality
SIO_000300: 1.47881e6

QD
type: SiteQuality
SIO_000300: 1.884e1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e-1

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508386629660915e-5
allele num: 66296
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.75e-1

QD
type: SiteQuality
SIO_000300: 8.949999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.002e0

FS
type: SiteQuality
SIO_000300: 3.266e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.77e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.480261e6

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66340
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.19e0

VQSLOD
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 1.482082e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-1

FS
type: SiteQuality
SIO_000300: 8.71e-1

QD
type: SiteQuality
SIO_000300: 2.831e1

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66376
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.483544e6

VQSLOD
type: SiteQuality
SIO_000300: 5.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

FS
type: SiteQuality
SIO_000300: 3.713e0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.32e-2

MQ
type: SiteQuality
SIO_000300: 5.931e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.051e0

QD
type: SiteQuality
SIO_000300: 1.507e1

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: 10350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506568639267205e-5
allele num: 66376
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

VQSLOD
type: SiteQuality
SIO_000300: 5.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.051e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.32e-2

FS
type: SiteQuality
SIO_000300: 3.713e0

QD
type: SiteQuality
SIO_000300: 1.507e1

MQ
type: SiteQuality
SIO_000300: 5.931e1

DP
type: SiteQuality
SIO_000300: 1.483544e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 1.568e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

DP
type: SiteQuality
SIO_000300: 1.484912e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.254e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.085e0

MQRankSum
type: SiteQuality
SIO_000300: -1.219e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.95e-1

European (Non-Finnish)
type: Population
allele count: 15331
allele frequency: 2.304096907030569e-1
allele num: 66538
num of homozygotes: 1790

African
type: Population
allele count: 2730
allele frequency: 2.627020785219399e-1
allele num: 10392
num of homozygotes: 385

South Asian
type: Population
allele count: 1789
allele frequency: 1.084111016846443e-1
allele num: 16502
num of homozygotes: 115

European (Finnish)
type: Population
allele count: 1510
allele frequency: 2.28649303452453e-1
allele num: 6604
num of homozygotes: 173

East Asian
type: Population
allele count: 379
allele frequency: 4.394712430426716e-2
allele num: 8624
num of homozygotes: 9

Other
type: Population
allele count: 185
allele frequency: 2.037444933920705e-1
allele num: 908
num of homozygotes: 21

QD
type: SiteQuality
SIO_000300: 1.668e1

MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.21e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e-1

DP
type: SiteQuality
SIO_000300: 2.51262e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.96e-2

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66560
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.5e-1

FS
type: SiteQuality
SIO_000300: 2.891e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.239e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.96e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.24e-1

QD
type: SiteQuality
SIO_000300: 1.064e1

DP
type: SiteQuality
SIO_000300: 2.432156e6

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66566
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.286e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.83e-2

FS
type: SiteQuality
SIO_000300: 1.844e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.72e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

MQRankSum
type: SiteQuality
SIO_000300: 8.149999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e0

DP
type: SiteQuality
SIO_000300: 2.432361e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 1.765e1

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: 8638
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 2.963e1

DP
type: SiteQuality
SIO_000300: 2.433846e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.87e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.01e-1

FS
type: SiteQuality
SIO_000300: 5.191e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.223e0

VQSLOD
type: SiteQuality
SIO_000300: -1.851e0

MQRankSum
type: SiteQuality
SIO_000300: 2.52e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.2e-1

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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: 10392
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.914e1

VQSLOD
type: SiteQuality
SIO_000300: 6.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.71e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.893e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-2

QD
type: SiteQuality
SIO_000300: 1.246e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.82e-1

DP
type: SiteQuality
SIO_000300: 2.434727e6

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00336376741951e-5
allele num: 66592
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.71e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.23e-1

QD
type: SiteQuality
SIO_000300: 1.246e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.434727e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.893e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.47e-1

MQ
type: SiteQuality
SIO_000300: 5.914e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-2

European (Finnish)
type: Population
allele count: 3519
allele frequency: 5.326975476839237e-1
allele num: 6606
num of homozygotes: 933

African
type: Population
allele count: 9332
allele frequency: 8.96962706651288e-1
allele num: 10404
num of homozygotes: 4198

Latino
type: Population
allele count: 6605
allele frequency: 5.713667820069204e-1
allele num: 11560
num of homozygotes: 1923

Other
type: Population
allele count: 506
allele frequency: 5.572687224669604e-1
allele num: 908
num of homozygotes: 154

South Asian
type: Population
allele count: 5230
allele frequency: 3.167777104784979e-1
allele num: 16510
num of homozygotes: 894

East Asian
type: Population
allele count: 1933
allele frequency: 2.24454249883883e-1
allele num: 8612
num of homozygotes: 212

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.47e-1

DP
type: SiteQuality
SIO_000300: 3.713398e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.01e-1

QD
type: SiteQuality
SIO_000300: 2.241e1

VQSLOD
type: SiteQuality
SIO_000300: 6.11e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.218e-1

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

Latino
type: Population
allele count: 45
allele frequency: 3.887353144436766e-3
allele num: 11576
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 853
allele frequency: 8.198769703960015e-2
allele num: 10404
num of homozygotes: 34

European (Non-Finnish)
type: Population
allele count: 205
allele frequency: 3.073647595058174e-3
allele num: 66696
num of homozygotes: 4

South Asian
type: Population
allele count: 29
allele frequency: 1.756298449612403e-3
allele num: 16512
num of homozygotes: 1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.19e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.154196e6

VQSLOD
type: SiteQuality
SIO_000300: 5.36e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

QD
type: SiteQuality
SIO_000300: 1.647e1

MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.79e-1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 124
allele frequency: 1.859181959937628e-3
allele num: 66696
num of homozygotes: 0

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

Latino
type: Population
allele count: 11
allele frequency: 9.502418797512094e-4
allele num: 11576
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.16e0

QD
type: SiteQuality
SIO_000300: 1.484e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.65e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

DP
type: SiteQuality
SIO_000300: 3.126253e6

MQ
type: SiteQuality
SIO_000300: 5.955e1

FS
type: SiteQuality
SIO_000300: 1.194e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.13e-1

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 3.126253e6

MQ
type: SiteQuality
SIO_000300: 5.955e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.65e-2

QD
type: SiteQuality
SIO_000300: 1.484e1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

FS
type: SiteQuality
SIO_000300: 1.194e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -8.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e-1

FS
type: SiteQuality
SIO_000300: 4.831e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.06e-1

MQ
type: SiteQuality
SIO_000300: 5.739e1

QD
type: SiteQuality
SIO_000300: 1.63e1

VQSLOD
type: SiteQuality
SIO_000300: -1.103e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.125757e6

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.18e-1

MQ
type: SiteQuality
SIO_000300: 5.91e1

DP
type: SiteQuality
SIO_000300: 3.125749e6

FS
type: SiteQuality
SIO_000300: 9.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.643e0

QD
type: SiteQuality
SIO_000300: 3.317e1

VQSLOD
type: SiteQuality
SIO_000300: -2.285e0

MQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.007e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.282e0

DP
type: SiteQuality
SIO_000300: 3.126072e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 1.981e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

VQSLOD
type: SiteQuality
SIO_000300: -1.335e-1

QD
type: SiteQuality
SIO_000300: 1.328e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.19e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 1.037e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -8.108e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.06e-1

DP
type: SiteQuality
SIO_000300: 3.126177e6

QD
type: SiteQuality
SIO_000300: 1.36e1

East Asian
type: Population
allele count: 4
allele frequency: 4.625346901017577e-4
allele num: 8648
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 7.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.596e0

DP
type: SiteQuality
SIO_000300: 3.126378e6

QD
type: SiteQuality
SIO_000300: 1.342e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 3.284e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.995502248875562e-5
allele num: 66700
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: 16512
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.345e1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.139e0

DP
type: SiteQuality
SIO_000300: 3.126489e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.56e-1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.342e0

DP
type: SiteQuality
SIO_000300: 3.126242e6

QD
type: SiteQuality
SIO_000300: 2.008e1

FS
type: SiteQuality
SIO_000300: 7.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.911e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.846e0

FS
type: SiteQuality
SIO_000300: 1.202e0

DP
type: SiteQuality
SIO_000300: 3.126911e6

QD
type: SiteQuality
SIO_000300: 2.284e1

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.66e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 11576
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.19e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.09e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.571e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.719e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 6.154e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.82e-1

DP
type: SiteQuality
SIO_000300: 3.126832e6

MQ
type: SiteQuality
SIO_000300: 5.923e1

Other
type: Population
allele count: 202
allele frequency: 2.224669603524229e-1
allele num: 908
num of homozygotes: 22

European (Finnish)
type: Population
allele count: 1344
allele frequency: 2.032667876588022e-1
allele num: 6612
num of homozygotes: 131

European (Non-Finnish)
type: Population
allele count: 23640
allele frequency: 3.544334162943417e-1
allele num: 66698
num of homozygotes: 4204

East Asian
type: Population
allele count: 9
allele frequency: 1.040462427745665e-3
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 747
allele frequency: 7.179930795847751e-2
allele num: 10404
num of homozygotes: 36

South Asian
type: Population
allele count: 2393
allele frequency: 1.449249031007752e-1
allele num: 16512
num of homozygotes: 184

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.97e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e-1

FS
type: SiteQuality
SIO_000300: 7.552e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.57e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

MQRankSum
type: SiteQuality
SIO_000300: 9.6e-2

QD
type: SiteQuality
SIO_000300: 1.777e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.1e0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

DP
type: SiteQuality
SIO_000300: 3.685642e6

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.9e-2

MQ
type: SiteQuality
SIO_000300: 5.915e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.632e0

DP
type: SiteQuality
SIO_000300: 2.597698e6

QD
type: SiteQuality
SIO_000300: 1.247e1

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.098e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

MQRankSum
type: SiteQuality
SIO_000300: 1.73e-1

QD
type: SiteQuality
SIO_000300: 1.444e1

VQSLOD
type: SiteQuality
SIO_000300: -1.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 1.4101e1

DP
type: SiteQuality
SIO_000300: 2.597733e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.28e-1

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

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.003e0

FS
type: SiteQuality
SIO_000300: 3.316e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.375e-1

QD
type: SiteQuality
SIO_000300: 1.032e1

DP
type: SiteQuality
SIO_000300: 2.597662e6

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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: 16512
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.31e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.72e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.45e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.94e-1

DP
type: SiteQuality
SIO_000300: 2.597794e6

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

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

African
type: Population
allele count: 18
allele frequency: 1.729771285796656e-3
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.41e-1

QD
type: SiteQuality
SIO_000300: 1.503e1

DP
type: SiteQuality
SIO_000300: 2.598022e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.357e0

QD
type: SiteQuality
SIO_000300: 1.081e1

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.568e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.623e0

VQSLOD
type: SiteQuality
SIO_000300: 5.54e-1

DP
type: SiteQuality
SIO_000300: 2.598152e6

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.352e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.564e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e-1

DP
type: SiteQuality
SIO_000300: 2.598201e6

FS
type: SiteQuality
SIO_000300: 1.0693e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.91e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.181e0

MQ
type: SiteQuality
SIO_000300: 5.698e1

VQSLOD
type: SiteQuality
SIO_000300: -1.536e0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -8.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.318e0

DP
type: SiteQuality
SIO_000300: 2.598183e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.548e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.82e-1

MQ
type: SiteQuality
SIO_000300: 5.789e1

FS
type: SiteQuality
SIO_000300: 7.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

QD
type: SiteQuality
SIO_000300: 1.308e1

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 4.328e0

DP
type: SiteQuality
SIO_000300: 2.598338e6

MQ
type: SiteQuality
SIO_000300: 5.984e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.255e0

VQSLOD
type: SiteQuality
SIO_000300: 1.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.25e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.235e0

QD
type: SiteQuality
SIO_000300: 1.349e1

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

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 70
allele frequency: 1.049066330965441e-3
allele num: 66726
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

FS
type: SiteQuality
SIO_000300: 1.838e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.77e0

QD
type: SiteQuality
SIO_000300: 1.259e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.600943e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 22
allele frequency: 3.297065611605671e-4
allele num: 66726
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.838e0

MQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.961e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

DP
type: SiteQuality
SIO_000300: 2.600943e6

QD
type: SiteQuality
SIO_000300: 1.259e1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.69e-1

MQ
type: SiteQuality
SIO_000300: 5.939e1

QD
type: SiteQuality
SIO_000300: 1.287e1

FS
type: SiteQuality
SIO_000300: 3.341e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.36e-1

DP
type: SiteQuality
SIO_000300: 2.594918e6

East Asian
type: Population
allele count: 1539
allele frequency: 1.782075034738305e-1
allele num: 8636
num of homozygotes: 125

African
type: Population
allele count: 1605
allele frequency: 1.542379396502018e-1
allele num: 10406
num of homozygotes: 128

European (Finnish)
type: Population
allele count: 644
allele frequency: 9.736921681282129e-2
allele num: 6614
num of homozygotes: 39

Latino
type: Population
allele count: 1614
allele frequency: 1.394987035436474e-1
allele num: 11570
num of homozygotes: 124

Other
type: Population
allele count: 76
allele frequency: 8.370044052863436e-2
allele num: 908
num of homozygotes: 5

European (Non-Finnish)
type: Population
allele count: 3835
allele frequency: 5.747557100893232e-2
allele num: 66724
num of homozygotes: 111

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 5.4e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

VQSLOD
type: SiteQuality
SIO_000300: 5.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.508e0

QD
type: SiteQuality
SIO_000300: 1.469e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.71e-2

DP
type: SiteQuality
SIO_000300: 2.887947e6

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.249e0

QD
type: SiteQuality
SIO_000300: 9.31e0

VQSLOD
type: SiteQuality
SIO_000300: 1.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

DP
type: SiteQuality
SIO_000300: 2.222115e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.8e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.222178e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.53e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

MQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.22e0

FS
type: SiteQuality
SIO_000300: 5.354e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.37e-1

QD
type: SiteQuality
SIO_000300: 1.333e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.308e1

VQSLOD
type: SiteQuality
SIO_000300: 9.320000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.222364e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.25e-1

FS
type: SiteQuality
SIO_000300: 2.476e0

MQRankSum
type: SiteQuality
SIO_000300: -1.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.77e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495863805299125e-5
allele num: 66728
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 11
allele frequency: 6.661821705426356e-4
allele num: 16512
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.597e0

DP
type: SiteQuality
SIO_000300: 2.222851e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

MQRankSum
type: SiteQuality
SIO_000300: -1.84e-1

FS
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 1.165e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 7.77336327517706e-4
allele num: 11578
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 2.22255e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

FS
type: SiteQuality
SIO_000300: 5.21e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 4.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.22e1

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.843936190659235e-4
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

DP
type: SiteQuality
SIO_000300: 2.222213e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.57e-1

QD
type: SiteQuality
SIO_000300: 1.344e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.263e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
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Latino
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East Asian
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allele num: 8650
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66730
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MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.986e0

VQSLOD
type: SiteQuality
SIO_000300: 9.58e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.71e-1

FS
type: SiteQuality
SIO_000300: 3.457e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.220991e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.05e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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Latino
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allele frequency: 4.318535152876144e-4
allele num: 11578
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African
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allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
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European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.49265719594797e-5
allele num: 66732
num of homozygotes: 0

East Asian
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allele count: 0
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South Asian
type: Population
allele count: 0
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allele num: 16512
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 1.094e0

MQRankSum
type: SiteQuality
SIO_000300: 7.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.322e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.951e1

QD
type: SiteQuality
SIO_000300: 1.243e1

DP
type: SiteQuality
SIO_000300: 2.221336e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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Latino
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allele frequency: 0.0e0
allele num: 11578
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.643e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.07e0

VQSLOD
type: SiteQuality
SIO_000300: -4.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.220692e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.42e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.49e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8650
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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African
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allele count: 0
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Other
type: Population
allele count: 0
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

QD
type: SiteQuality
SIO_000300: 1.314e1

DP
type: SiteQuality
SIO_000300: 2.220774e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997062878379188e-5
allele num: 66732
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 2.220774e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.45e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

QD
type: SiteQuality
SIO_000300: 1.314e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

African
type: Population
allele count: 4
allele frequency: 3.843936190659235e-4
allele num: 10406
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European (Finnish)
type: Population
allele count: 4
allele frequency: 6.047777441790142e-4
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 108
allele frequency: 1.618413954324762e-3
allele num: 66732
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.182242183451373e-4
allele num: 11578
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Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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MQRankSum
type: SiteQuality
SIO_000300: 3.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e-1

QD
type: SiteQuality
SIO_000300: 1.244e1

VQSLOD
type: SiteQuality
SIO_000300: 5.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.226126e6

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
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South Asian
type: Population
allele count: 0
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East Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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QD
type: SiteQuality
SIO_000300: 6.61e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.85e-1

MQ
type: SiteQuality
SIO_000300: 5.887e1

MQRankSum
type: SiteQuality
SIO_000300: -7.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.215388e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.72e-1

FS
type: SiteQuality
SIO_000300: 4.204e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.9e-2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11576
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Other
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allele count: 0
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East Asian
type: Population
allele count: 0
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MQ
type: SiteQuality
SIO_000300: 5.913e1

FS
type: SiteQuality
SIO_000300: 1.499e0

DP
type: SiteQuality
SIO_000300: 2.215342e6

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.37e0

VQSLOD
type: SiteQuality
SIO_000300: -1.219e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.498e0

QD
type: SiteQuality
SIO_000300: 9.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.256e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
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East Asian
type: Population
allele count: 0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
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South Asian
type: Population
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.792e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.946e1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-1

East Asian
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allele count: 0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
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Latino
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allele count: 0
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African
type: Population
allele count: 0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 906
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
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MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.245e1

Other
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East Asian
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African
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allele frequency: 9.609840476648087e-5
allele num: 10406
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Latino
type: Population
allele count: 2
allele frequency: 1.728309713100588e-4
allele num: 11572
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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MQ
type: SiteQuality
SIO_000300: 5.953e1

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.225e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.29e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
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Other
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South Asian
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allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
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African
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.66e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.425e1

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.71e0

African
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allele count: 0
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South Asian
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Other
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Latino
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allele count: 0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.34e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.425e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.71e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.214753e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
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South Asian
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allele count: 0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

Other
type: Population
allele count: 0
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East Asian
type: Population
allele count: 0
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allele num: 8654
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.945e-1

QD
type: SiteQuality
SIO_000300: 1.842e1

MQ
type: SiteQuality
SIO_000300: 5.93e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.51e-1

DP
type: SiteQuality
SIO_000300: 2.214289e6

East Asian
type: Population
allele count: 0
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African
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South Asian
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allele count: 0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
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Other
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allele num: 906
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.336e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.84e0

DP
type: SiteQuality
SIO_000300: 2.213806e6

MQRankSum
type: SiteQuality
SIO_000300: 3.15e-1

QD
type: SiteQuality
SIO_000300: 1.27e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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European (Finnish)
type: Population
allele count: 0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
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African
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East Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 3.608e0

MQ
type: SiteQuality
SIO_000300: 5.86e1

QD
type: SiteQuality
SIO_000300: 1.222e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

DP
type: SiteQuality
SIO_000300: 2.213278e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.726e-1

East Asian
type: Population
allele count: 54
allele frequency: 6.244218316373728e-3
allele num: 8648
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
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: 7
allele frequency: 4.239854633555421e-4
allele num: 16510
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.977e1

FS
type: SiteQuality
SIO_000300: 6.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.527e0

QD
type: SiteQuality
SIO_000300: 1.243e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.76e-2

DP
type: SiteQuality
SIO_000300: 2.216409e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.84e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.68e-1

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.923e1

FS
type: SiteQuality
SIO_000300: 8.648999999999999e0

DP
type: SiteQuality
SIO_000300: 2.210933e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

VQSLOD
type: SiteQuality
SIO_000300: -7.246e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.967e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

QD
type: SiteQuality
SIO_000300: 1.409e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.207e0

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

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -7.246e-1

MQ
type: SiteQuality
SIO_000300: 5.923e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.967e0

FS
type: SiteQuality
SIO_000300: 8.648999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.207e0

DP
type: SiteQuality
SIO_000300: 2.210933e6

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

QD
type: SiteQuality
SIO_000300: 1.409e1

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

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.137e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 2.206525e6

VQSLOD
type: SiteQuality
SIO_000300: 8.500000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.065e0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.202269e6

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.388e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.66e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.85e-2

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.61e-1

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.3e-2

FS
type: SiteQuality
SIO_000300: 6.637e0

MQRankSum
type: SiteQuality
SIO_000300: -7.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.187556e6