X-11130245-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011130245
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011130245
    reference: chr 0
allele count: 1
allele frequency: 1.144754164043272e-5
allele num: 87355
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.65C>T
  hgvsp: ENSP00000370139.4:p.Pro22Leu
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.65C>T
  hgvsp: ENSP00000326579.4:p.Pro22Leu
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.65C>T
  hgvsp: ENSP00000370140.3:p.Pro22Leu
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  bin: 6.75e1
  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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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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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: 1349
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44933
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro22Leu
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

X-11130258-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011130258
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011130258
    reference: chr 0
allele count: 2
allele frequency: 2.301601914932793e-5
allele num: 86896
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.78G>A
  hgvsp: ENST00000380762.4:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.78G>A
  hgvsp: ENST00000321143.4:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.78G>A
  hgvsp: ENST00000380763.3:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 265
  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 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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro26Pro
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

X-11130259-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011130259
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011130259
    reference: chr 0
allele count: 1
allele frequency: 1.15073474413413e-5
allele num: 86901
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.79A>G
  hgvsp: ENSP00000370139.4:p.Met27Val
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.79A>G
  hgvsp: ENSP00000370140.3:p.Met27Val
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.79A>G
  hgvsp: ENSP00000326579.4:p.Met27Val
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  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 depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
  all individuals: 102
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hgvs: p.Met27Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

X-11130263-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011130263
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011130263
    reference: chr 0
allele count: 1
allele frequency: 1.154974475064101e-5
allele num: 86582
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.83A>C
  hgvsp: ENSP00000370139.4:p.His28Pro
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.83A>C
  hgvsp: ENSP00000370140.3:p.His28Pro
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.83A>C
  hgvsp: ENSP00000326579.4:p.His28Pro
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
  all individuals: 2932
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  variant carriers: 0
hgvs: p.His28Pro
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

X-11130274-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011130274
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011130274
    reference: chr 0
allele count: 3
allele frequency: 3.513662290205081e-5
allele num: 85381
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.94A>G
  hgvsp: ENSP00000326579.4:p.Met32Val
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.94A>G
  hgvsp: ENSP00000370140.3:p.Met32Val
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.94A>G
  hgvsp: ENSP00000370139.4:p.Met32Val
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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hgvs: p.Met32Val
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

X-11130274-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011130274
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011130274
    reference: chr 0
allele count: 2
allele frequency: 2.342441526803387e-5
allele num: 85381
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.94A>T
  hgvsp: ENSP00000370140.3:p.Met32Leu
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.94A>T
  hgvsp: ENSP00000370139.4:p.Met32Leu
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.94A>T
  hgvsp: ENSP00000326579.4:p.Met32Leu
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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.Met32Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

X-11130286-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011130286
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011130286
    reference: chr 0
allele count: 1
allele frequency: 1.208590662428542e-5
allele num: 82741
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.100+6C>T
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.100+6C>T
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.100+6C>T
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2955
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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: c.100+6C>T
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

X-11130288-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011130288
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011130288
    reference: chr 0
allele count: 2
allele frequency: 2.422421937453066e-5
allele num: 82562
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.100+8G>A
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.100+8G>A
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.100+8G>A
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 3.75e1
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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 quality: GenotypeQuality
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hgvs: c.100+8G>A
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

X-11130289-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011130289
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011130289
    reference: chr 0
allele count: 2
allele frequency: 2.431433573234779e-5
allele num: 82256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.100+9C>T
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.100+9C>T
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.100+9C>T
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 6.75e1
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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  bin: 7.5e0
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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: 4.75e1
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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: 474
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

X-11130291-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011130291
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011130290
    reference: chr 0
allele count: 1
allele frequency: 1.225520233339052e-5
allele num: 81598
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.100+14delT
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.100+14delT
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.100+14delT
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11902
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: CT
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

X-11130295-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011130295
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011130295
    reference: chr 0
allele count: 1
allele frequency: 1.241850357031978e-5
allele num: 80525
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.100+15G>A
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.100+15G>A
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.100+15G>A
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 9.75e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2089
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

X-11130295-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011130295
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011130294
    reference: chr 0
allele count: 1
allele frequency: 1.241850357031978e-5
allele num: 80525
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.100+17delC
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.100+17delC
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.100+17delC
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7258
  bin: 2.25e1
  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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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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  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: GC
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

X-11130305-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011130305
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011130305
    reference: chr 0
allele count: 2
allele frequency: 2.571950309920012e-5
allele num: 77762
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.100+25T>A
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.100+25T>A
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.100+25T>A
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7762
  bin: 3.25e1
  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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  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
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site quality: ClippingRankSum
site quality: ReadPosRankSum
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site quality: VQSLOD
site quality: QD
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X-11130310-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011130310
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011130310
    reference: chr 0
allele count: 7
allele frequency: 9.171907756813417e-5
allele num: 76320
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.100+30A>G
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.100+30A>G
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.100+30A>G
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: intron
filter: PASS
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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num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: DP
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site quality: MQ
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X-11130317-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011130317
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011130317
    reference: chr 0
allele count: 1
allele frequency: 1.395147676381545e-5
allele num: 71677
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.100+37A>G
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.100+37A>G
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
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  ensembl gene: ENSG00000004961
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  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: intron
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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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num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
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X-11130325-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011130325
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011130325
    reference: chr 0
allele count: 1
allele frequency: 1.61266912867487e-5
allele num: 62009
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.100+45C>T
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.100+45C>T
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.100+45C>T
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: intron
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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num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
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site quality: QD
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X-11130331-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011130331
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011130331
    reference: chr 0
allele count: 1
allele frequency: 1.652755970580944e-5
allele num: 60505
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.100+51G>A
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.100+51G>A
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.100+51G>A
  variant of: http://identifiers.org/hgnc/4837
canonical: true
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genotype depth: GenotypeDepth
  all individuals: 215
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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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num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
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site quality: VQSLOD
site quality: ReadPosRankSum
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X-11130332-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011130332
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011130332
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 60634
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.100+52G>A
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.100+52G>A
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
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  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.100+52G>A
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
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site quality: InbreedingCoeff
site quality: QD
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X-11132904-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011132904
    reference: chr 0
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    type: ExactPosition
    position: 24011132904
    reference: chr 0
allele count: 3
allele frequency: 3.430100273264655e-5
allele num: 87461
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
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  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.101-51T>A
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004961
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  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.101-51T>A
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
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  ensembl gene: ENSG00000004961
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  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: intron
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
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X-11132905-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011132905
    reference: chr 0
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    type: ExactPosition
    position: 24011132905
    reference: chr 0
allele count: 3
allele frequency: 3.430178712310911e-5
allele num: 87459
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
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  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.101-50T>G
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.101-50T>G
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
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  ensembl gene: ENSG00000004961
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  hgvsc: ENST00000321143.4:c.101-50T>G
  variant of: http://identifiers.org/hgnc/4837
canonical: true
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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population: European (Non-Finnish)
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X-11132931-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011132931
    reference: chr 0
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    type: ExactPosition
    position: 24011132931
    reference: chr 0
allele count: 1
allele frequency: 1.142791840466259e-5
allele num: 87505
alternate allele: G
annotation: Annotation
  canonical: true
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  ensembl protein: ENSP00000326579
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  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.101-24C>G
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.101-24C>G
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
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  ensembl gene: ENSG00000004961
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  variant of: http://identifiers.org/hgnc/4837
canonical: true
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genotype quality: GenotypeQuality
  all individuals: 27068
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5691
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

X-11132934-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011132934
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011132934
    reference: chr 0
allele count: 1
allele frequency: 1.142491545562563e-5
allele num: 87528
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.101-21T>C
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.101-21T>C
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.101-21T>C
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10150
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1645
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 4604
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 3760
  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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genotype quality: GenotypeQuality
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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: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
  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: 27067
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genotype quality: GenotypeQuality
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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: 2509
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3654
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

X-11132942-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011132942
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011132942
    reference: chr 0
allele count: 4
allele frequency: 4.568922191255083e-5
allele num: 87548
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.101-13T>C
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.101-13T>C
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.101-13T>C
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2855
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10149
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3655
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

X-11132944-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011132944
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011132944
    reference: chr 0
allele count: 15
allele frequency: 1.713228407611303e-4
allele num: 87554
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.101-11G>C
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.101-11G>C
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.101-11G>C
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 474
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 4.25e1
  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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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 3275
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1471
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

X-11132948-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011132948
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011132948
    reference: chr 0
allele count: 1
allele frequency: 1.141865351237782e-5
allele num: 87576
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.101-7A>T
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.101-7A>T
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.101-7A>T
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  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 depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 61
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  variant carriers: 0
hgvs: c.101-7A>T
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

X-11132956-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011132956
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011132956
    reference: chr 0
allele count: 1
allele frequency: 1.141304968100526e-5
allele num: 87619
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.102C>T
  hgvsp: ENST00000321143.4:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.102C>T
  hgvsp: ENST00000380763.3:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.102C>T
  hgvsp: ENST00000380762.4:c.102C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12460
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  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
  all individuals: 473
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 7.75e1
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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
  all individuals: 683
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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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: 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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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
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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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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5706
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 8.75e1
  variant carriers: 0
hgvs: c.102C>T
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

X-11132957-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011132957
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011132957
    reference: chr 0
allele count: 6
allele frequency: 6.847439057792385e-5
allele num: 87624
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.103T>C
  hgvsp: ENSP00000370139.4:p.Cys35Arg
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.103T>C
  hgvsp: ENSP00000326579.4:p.Cys35Arg
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.103T>C
  hgvsp: ENSP00000370140.3:p.Cys35Arg
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 6.75e1
  variant carriers: 0
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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 3090
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  variant carriers: 0
hgvs: p.Cys35Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

X-11132964-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011132964
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011132964
    reference: chr 0
allele count: 2
allele frequency: 2.28177659125395e-5
allele num: 87651
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.110T>C
  hgvsp: ENSP00000370140.3:p.Val37Ala
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.110T>C
  hgvsp: ENSP00000326579.4:p.Val37Ala
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.110T>C
  hgvsp: ENSP00000370139.4:p.Val37Ala
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12500
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
  all individuals: 114
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  variant carriers: 0
hgvs: p.Val37Ala
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

X-11132968-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011132968
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011132968
    reference: chr 0
allele count: 1
allele frequency: 1.140784175041924e-5
allele num: 87659
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.114T>C
  hgvsp: ENST00000321143.4:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.114T>C
  hgvsp: ENST00000380763.3:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.114T>C
  hgvsp: ENST00000380762.4:c.114T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
  all individuals: 2498
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  variant carriers: 0
hgvs: p.Asn38Asn
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

X-11132969-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011132969
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011132969
    reference: chr 0
allele count: 1
allele frequency: 1.140758147865071e-5
allele num: 87661
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.115A>T
  hgvsp: ENSP00000326579.4:p.Thr39Ser
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.115A>T
  hgvsp: ENSP00000370139.4:p.Thr39Ser
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.115A>T
  hgvsp: ENSP00000370140.3:p.Thr39Ser
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5714
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14520
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2498
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2435
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27051
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr39Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

X-11132982-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011132982
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011132982
    reference: chr 0
allele count: 1
allele frequency: 1.140224852340882e-5
allele num: 87702
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.128G>A
  hgvsp: ENSP00000370140.3:p.Gly43Asp
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.128G>A
  hgvsp: ENSP00000370139.4:p.Gly43Asp
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.128G>A
  hgvsp: ENSP00000326579.4:p.Gly43Asp
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4593
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3762
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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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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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3079
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genotype quality: GenotypeQuality
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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: 24
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14597
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly43Asp
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

X-11132990-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011132990
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011132990
    reference: chr 0
allele count: 1
allele frequency: 1.140068860159154e-5
allele num: 87714
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.136T>C
  hgvsp: ENSP00000326579.4:p.Cys46Arg
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.136T>C
  hgvsp: ENSP00000370139.4:p.Cys46Arg
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.136T>C
  hgvsp: ENSP00000370140.3:p.Cys46Arg
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3275
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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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
  all individuals: 473
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 8.75e1
  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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genotype quality: GenotypeQuality
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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: 38
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2428
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Cys46Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD

X-11133022-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011133022
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011133022
    reference: chr 0
allele count: 1
allele frequency: 1.139912910653626e-5
allele num: 87726
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.168C>A
  hgvsp: ENSP00000370139.4:p.His56Gln
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.168C>A
  hgvsp: ENSP00000326579.4:p.His56Gln
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.168C>A
  hgvsp: ENSP00000370140.3:p.His56Gln
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4003
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4595
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  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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  bin: 3.75e1
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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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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2491
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genotype quality: GenotypeQuality
  all individuals: 6
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14777
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His56Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

X-11133026-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011133026
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011133026
    reference: chr 0
allele count: 1
allele frequency: 1.139925904816187e-5
allele num: 87725
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.172G>C
  hgvsp: ENSP00000370140.3:p.Glu58Gln
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.172G>C
  hgvsp: ENSP00000370139.4:p.Glu58Gln
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.172G>C
  hgvsp: ENSP00000326579.4:p.Glu58Gln
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.25e1
  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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5692
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu58Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

X-11133029-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011133029
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011133029
    reference: chr 0
allele count: 1
allele frequency: 1.139951894030072e-5
allele num: 87723
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.175C>A
  hgvsp: ENSP00000326579.4:p.Arg59Ser
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.175C>A
  hgvsp: ENSP00000370139.4:p.Arg59Ser
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.175C>A
  hgvsp: ENSP00000370140.3:p.Arg59Ser
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12681
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 27045
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  variant carriers: 1
hgvs: p.Arg59Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

X-11133029-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011133029
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011133029
    reference: chr 0
allele count: 6
allele frequency: 6.839711364180432e-5
allele num: 87723
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.175C>T
  hgvsp: ENSP00000370139.4:p.Arg59Cys
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.175C>T
  hgvsp: ENSP00000370140.3:p.Arg59Cys
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.175C>T
  hgvsp: ENSP00000326579.4:p.Arg59Cys
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 2428
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hgvs: p.Arg59Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

X-11133030-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011133030
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011133030
    reference: chr 0
allele count: 9
allele frequency: 1.025933314334568e-4
allele num: 87725
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.176G>A
  hgvsp: ENSP00000370140.3:p.Arg59His
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.176G>A
  hgvsp: ENSP00000326579.4:p.Arg59His
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.176G>A
  hgvsp: ENSP00000370139.4:p.Arg59His
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3762
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 16
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  variant carriers: 0
hgvs: p.Arg59His
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

X-11133031-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011133031
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011133031
    reference: chr 0
allele count: 5
allele frequency: 5.699694496374994e-5
allele num: 87724
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.177C>T
  hgvsp: ENST00000380762.4:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.177C>T
  hgvsp: ENST00000380763.3:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.177C>T
  hgvsp: ENST00000321143.4:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3762
  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
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
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  bin: 7.5e0
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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: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5692
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3628
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14775
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg59Arg
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

X-11133032-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011133032
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011133032
    reference: chr 0
allele count: 1
allele frequency: 1.139938899274999e-5
allele num: 87724
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.178G>A
  hgvsp: ENSP00000326579.4:p.Ala60Thr
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.178G>A
  hgvsp: ENSP00000370139.4:p.Ala60Thr
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.178G>A
  hgvsp: ENSP00000370140.3:p.Ala60Thr
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
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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
  all individuals: 4592
  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 depth: GenotypeDepth
  all individuals: 1623
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3071
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala60Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ

X-11133043-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011133043
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011133043
    reference: chr 0
allele count: 42
allele frequency: 4.788507581803671e-4
allele num: 87710
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.189C>T
  hgvsp: ENST00000380763.3:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.189C>T
  hgvsp: ENST00000380762.4:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.189C>T
  hgvsp: ENST00000321143.4:c.189C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
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  variant carriers: 3
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4000
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 4592
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  variant carriers: 3
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 2857
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genotype depth: GenotypeDepth
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  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3070
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  variant carriers: 1
hgvs: p.Tyr63Tyr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

X-11133044-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011133044
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011133044
    reference: chr 0
allele count: 26
allele frequency: 2.96428042092782e-4
allele num: 87711
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.190G>A
  hgvsp: ENSP00000326579.4:p.Val64Met
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.190G>A
  hgvsp: ENSP00000370140.3:p.Val64Met
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.190G>A
  hgvsp: ENSP00000370139.4:p.Val64Met
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1619
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 4221
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 4000
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genotype depth: GenotypeDepth
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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: 27039
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  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 2490
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  variant carriers: 0
hgvs: p.Val64Met
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum

X-11133048-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011133048
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011133048
    reference: chr 0
allele count: 1
allele frequency: 1.140185850293598e-5
allele num: 87705
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.194A>G
  hgvsp: ENSP00000370139.4:p.Glu65Gly
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.194A>G
  hgvsp: ENSP00000370140.3:p.Glu65Gly
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.194A>G
  hgvsp: ENSP00000326579.4:p.Glu65Gly
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2232
  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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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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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  bin: 3.75e1
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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: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 2430
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 14763
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu65Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: MQ

X-11133069-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011133069
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011133069
    reference: chr 0
allele count: 1610
allele frequency: 1.837836603769277e-2
allele num: 87603
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.215C>T
  hgvsp: ENSP00000370140.3:p.Ala72Val
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.215C>T
  hgvsp: ENSP00000326579.4:p.Ala72Val
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.215C>T
  hgvsp: ENSP00000370139.4:p.Ala72Val
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2843
  bin: 6.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 21
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  variant carriers: 4
hgvs: p.Ala72Val
num of homozygotes: 13
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

X-11133070-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011133070
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011133070
    reference: chr 0
allele count: 120
allele frequency: 1.369691020533951e-3
allele num: 87611
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.216G>C
  hgvsp: ENST00000380763.3:c.216G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.216G>C
  hgvsp: ENST00000380762.4:c.216G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.216G>C
  hgvsp: ENST00000321143.4:c.216G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4588
  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3268
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 118
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2496
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  variant carriers: 0
hgvs: p.Ala72Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

X-11133089-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011133089
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011133089
    reference: chr 0
allele count: 1
allele frequency: 1.143575962033278e-5
allele num: 87445
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.235C>G
  hgvsp: ENSP00000326579.4:p.Leu79Val
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.235C>G
  hgvsp: ENSP00000370140.3:p.Leu79Val
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.235C>G
  hgvsp: ENSP00000370139.4:p.Leu79Val
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10196
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
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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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 5708
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu79Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

X-11133115-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011133115
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011133115
    reference: chr 0
allele count: 2
allele frequency: 2.300675248185343e-5
allele num: 86931
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.252+9C>G
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.252+9C>G
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.252+9C>G
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9948
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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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

X-11133116-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011133116
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011133116
    reference: chr 0
allele count: 1
allele frequency: 1.150933406993071e-5
allele num: 86886
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.252+10A>C
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.252+10A>C
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.252+10A>C
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
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  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

X-11133129-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011133129
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011133129
    reference: chr 0
allele count: 31
allele frequency: 3.590414750813635e-4
allele num: 86341
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.252+23T>C
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.252+23T>C
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.252+23T>C
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

X-11133138-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011133138
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011133138
    reference: chr 0
allele count: 1
allele frequency: 1.162250116225012e-5
allele num: 86040
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.252+32T>A
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.252+32T>A
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.252+32T>A
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 6.75e1
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
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site quality: VQSLOD

X-11133148-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011133148
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011133148
    reference: chr 0
allele count: 2
allele frequency: 2.336421303489445e-5
allele num: 85601
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.252+42G>A
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.252+42G>A
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.252+42G>A
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 7.5e0
  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

X-11133151-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011133151
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011133151
    reference: chr 0
allele count: 1
allele frequency: 1.169782186556863e-5
allele num: 85486
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.252+45T>C
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.252+45T>C
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.252+45T>C
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: intron
filter: PASS
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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD

X-11135345-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011135345
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011135345
    reference: chr 0
allele count: 1
allele frequency: 1.142530705512711e-5
allele num: 87525
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.253-42T>A
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.253-42T>A
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.253-42T>A
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

X-11135346-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011135346
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011135346
    reference: chr 0
allele count: 1
allele frequency: 1.142765721599415e-5
allele num: 87507
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.253-41A>G
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.253-41A>G
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.253-41A>G
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
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site quality: DP

X-11135352-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011135352
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011135352
    reference: chr 0
allele count: 5
allele frequency: 5.711022272986865e-5
allele num: 87550
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.253-35T>C
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.253-35T>C
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.253-35T>C
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: intron
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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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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22720
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19269
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2702
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1344
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

X-11135356-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011135356
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011135356
    reference: chr 0
allele count: 2
allele frequency: 2.283887175973507e-5
allele num: 87570
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.253-31C>T
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.253-31C>T
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.253-31C>T
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 8947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 64
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genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  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
  all individuals: 62
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2301
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3260
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 1341
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19268
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

X-11135387-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011135387
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011135387
    reference: chr 0
allele count: 2
allele frequency: 2.279384110413366e-5
allele num: 87743
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.253A>G
  hgvsp: ENSP00000370139.4:p.Met85Val
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.253A>G
  hgvsp: ENSP00000370140.3:p.Met85Val
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.253A>G
  hgvsp: ENSP00000326579.4:p.Met85Val
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3738
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9194
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  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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  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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
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genotype quality: GenotypeQuality
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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: 19270
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5884
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2706
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met85Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

X-11135389-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011135389
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011135389
    reference: chr 0
allele count: 1
allele frequency: 1.139575166377974e-5
allele num: 87752
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.255G>A
  hgvsp: ENSP00000326579.4:p.Met85Ile
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.255G>A
  hgvsp: ENSP00000370140.3:p.Met85Ile
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.255G>A
  hgvsp: ENSP00000370139.4:p.Met85Ile
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15952
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
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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: 1740
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9315
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 6.75e1
  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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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2303
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genotype quality: GenotypeQuality
  all individuals: 1342
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Met85Ile
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

X-11135390-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011135390
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011135390
    reference: chr 0
allele count: 1
allele frequency: 1.139562180210363e-5
allele num: 87753
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.256C>G
  hgvsp: ENSP00000326579.4:p.Pro86Ala
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.256C>G
  hgvsp: ENSP00000370140.3:p.Pro86Ala
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.256C>G
  hgvsp: ENSP00000370139.4:p.Pro86Ala
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 910
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3739
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9200
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1282
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genotype depth: GenotypeDepth
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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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  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
  all individuals: 1343
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
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genotype quality: GenotypeQuality
  all individuals: 2704
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro86Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

X-11135397-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011135397
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011135397
    reference: chr 0
allele count: 1
allele frequency: 1.139497253811618e-5
allele num: 87758
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.263C>G
  hgvsp: ENSP00000326579.4:p.Pro88Arg
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.263C>G
  hgvsp: ENSP00000370139.4:p.Pro88Arg
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.263C>G
  hgvsp: ENSP00000370140.3:p.Pro88Arg
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1823
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9199
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5152
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2704
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23673
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5887
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2301
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19269
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro88Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

X-11135404-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011135404
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011135404
    reference: chr 0
allele count: 1
allele frequency: 1.13947128532361e-5
allele num: 87760
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.270A>G
  hgvsp: ENST00000321143.4:c.270A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.270A>G
  hgvsp: ENST00000380762.4:c.270A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.270A>G
  hgvsp: ENST00000380763.3:c.270A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2705
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3254
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19269
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23688
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2197
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln90Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

X-11135429-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011135429
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011135429
    reference: chr 0
allele count: 1
allele frequency: 1.139432334810797e-5
allele num: 87763
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.295G>A
  hgvsp: ENSP00000326579.4:p.Ala99Thr
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.295G>A
  hgvsp: ENSP00000370139.4:p.Ala99Thr
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.295G>A
  hgvsp: ENSP00000370140.3:p.Ala99Thr
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3736
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
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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: 1340
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5890
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
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genotype quality: GenotypeQuality
  all individuals: 23697
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genotype quality: GenotypeQuality
  all individuals: 3255
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2705
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala99Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP

X-11135434-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011135434
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011135434
    reference: chr 0
allele count: 1
allele frequency: 1.139419351898273e-5
allele num: 87764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.300G>T
  hgvsp: ENSP00000370140.3:p.Leu100Phe
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.300G>T
  hgvsp: ENSP00000370139.4:p.Leu100Phe
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.300G>T
  hgvsp: ENSP00000326579.4:p.Leu100Phe
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9204
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5888
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2705
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19267
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 11
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2303
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu100Phe
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

X-11135441-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011135441
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011135441
    reference: chr 0
allele count: 1
allele frequency: 1.139419351898273e-5
allele num: 87764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.307G>T
  hgvsp: ENSP00000370140.3:p.Val103Phe
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.307G>T
  hgvsp: ENSP00000370139.4:p.Val103Phe
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.307G>T
  hgvsp: ENSP00000326579.4:p.Val103Phe
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4272
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23705
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3256
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19266
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2303
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5891
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2705
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val103Phe
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

X-11135464-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011135464
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011135464
    reference: chr 0
allele count: 2
allele frequency: 2.278890636038377e-5
allele num: 87762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.330G>A
  hgvsp: ENST00000380762.4:c.330G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.330G>A
  hgvsp: ENST00000321143.4:c.330G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.330G>A
  hgvsp: ENST00000380763.3:c.330G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 6.75e1
  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: 1741
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  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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  bin: 8.75e1
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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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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5891
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 2704
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro110Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

X-11135475-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011135475
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011135475
    reference: chr 0
allele count: 1
allele frequency: 1.139458301523456e-5
allele num: 87761
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.341C>T
  hgvsp: ENSP00000326579.4:p.Ser114Leu
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.341C>T
  hgvsp: ENSP00000370140.3:p.Ser114Leu
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.341C>T
  hgvsp: ENSP00000370139.4:p.Ser114Leu
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  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
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9188
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
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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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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  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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  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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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: 5889
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3254
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser114Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

X-11135477-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011135477
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011135477
    reference: chr 0
allele count: 1
allele frequency: 1.139458301523456e-5
allele num: 87761
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.343G>C
  hgvsp: ENSP00000326579.4:p.Glu115Gln
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.343G>C
  hgvsp: ENSP00000370139.4:p.Glu115Gln
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.343G>C
  hgvsp: ENSP00000370140.3:p.Glu115Gln
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4270
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3736
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 19266
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2703
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genotype quality: GenotypeQuality
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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: 1339
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu115Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

X-11135543-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011135543
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011135543
    reference: chr 0
allele count: 1
allele frequency: 1.146039859266305e-5
allele num: 87257
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.401+8A>T
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.401+8A>T
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.401+8A>T
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3735
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8506
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 6.25e1
  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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  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: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3230
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2686
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22576
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
hgvs: c.401+8A>T
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

X-11135549-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011135549
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011135549
    reference: chr 0
allele count: 1
allele frequency: 1.148527587632655e-5
allele num: 87068
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.401+14T>G
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.401+14T>G
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.401+14T>G
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
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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: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 21848
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

X-11135559-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011135559
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011135559
    reference: chr 0
allele count: 1
allele frequency: 1.151039388567877e-5
allele num: 86878
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.401+24T>C
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.401+24T>C
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.401+24T>C
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5077
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 238
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

X-11135563-AATTTCTTGTCAGAATATCCAAGAGTT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011135563
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011135537
    reference: chr 0
allele count: 1
allele frequency: 1.151635898794237e-5
allele num: 86833
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 8681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  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: 5.25e1
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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: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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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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genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2666
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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: 265
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: AATTTCTTGTCAGAATATCCAAGAGTT
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS

X-11157004-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011157004
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011157004
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 24470
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000047648
  ensembl protein: ENSP00000302312
  ensembl transcript: ENST00000303025
  gene symbol: ARHGAP6
  hgvsc: ENST00000303025.6:c.2295C>A
  hgvsp: ENST00000303025.6:c.2295C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/676
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000047648
  ensembl protein: ENSP00000435767
  ensembl transcript: ENST00000495242
  gene symbol: ARHGAP6
  hgvsc: ENST00000495242.1:c.*1017C>A
  variant of: http://identifiers.org/hgnc/676
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000047648
  ensembl transcript: ENST00000489330
  gene symbol: ARHGAP6
  hgvsc: ENST00000489330.2:n.4962C>A
  variant of: http://identifiers.org/hgnc/676
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000047648
  ensembl protein: ENSP00000338967
  ensembl transcript: ENST00000337414
  gene symbol: ARHGAP6
  hgvsc: ENST00000337414.4:c.2904C>A
  hgvsp: ENST00000337414.4:c.2904C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/676
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000047648
  ensembl protein: ENSP00000370112
  ensembl transcript: ENST00000380736
  gene symbol: ARHGAP6
  hgvsc: ENST00000380736.1:c.2295C>A
  hgvsp: ENST00000380736.1:c.2295C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/676
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000047648
  ensembl protein: ENSP00000438135
  ensembl transcript: ENST00000534860
  gene symbol: ARHGAP6
  hgvsc: ENST00000534860.1:c.1732+3349C>A
  variant of: http://identifiers.org/hgnc/676
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 26975
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3761
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16795
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  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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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25317
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16161
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala968Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD

X-11135569-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011135569
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011135569
    reference: chr 0
allele count: 1
allele frequency: 1.153495668623764e-5
allele num: 86693
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.401+34T>C
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.401+34T>C
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.401+34T>C
  variant of: http://identifiers.org/hgnc/4837
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
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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: 1739
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5024
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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: 261
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3144
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2647
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16431
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2048
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2293
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

X-11136408-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011136408
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011136408
    reference: chr 0
allele count: 2
allele frequency: 2.256317689530686e-4
allele num: 8864
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000047648
  ensembl protein: ENSP00000438135
  ensembl transcript: ENST00000534860
  gene symbol: ARHGAP6
  hgvsc: ENST00000534860.1:c.*40C>T
  variant of: http://identifiers.org/hgnc/676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.402-213G>A
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.402-213G>A
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.402-213G>A
  variant of: http://identifiers.org/hgnc/4837
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2931
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29536
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1003
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 764
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genotype quality: GenotypeQuality
  all individuals: 1492
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

X-11136414-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011136414
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011136414
    reference: chr 0
allele count: 5
allele frequency: 5.599731212901781e-4
allele num: 8929
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000047648
  ensembl protein: ENSP00000438135
  ensembl transcript: ENST00000534860
  gene symbol: ARHGAP6
  hgvsc: ENST00000534860.1:c.*34T>C
  variant of: http://identifiers.org/hgnc/676
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.402-207A>G
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.402-207A>G
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.402-207A>G
  variant of: http://identifiers.org/hgnc/4837
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3373
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 806
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 665
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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: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.25e1
  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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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 384
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  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: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 5906
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 553
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genotype quality: GenotypeQuality
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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: 177
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

X-11136432-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011136432
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011136432
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 9356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.402-189T>C
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.402-189T>C
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000047648
  ensembl protein: ENSP00000438135
  ensembl transcript: ENST00000534860
  gene symbol: ARHGAP6
  hgvsc: ENST00000534860.1:c.*16A>G
  variant of: http://identifiers.org/hgnc/676
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.402-189T>C
  variant of: http://identifiers.org/hgnc/4837
canonical: false
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32502
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4620
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2762
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29009
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

X-11136448-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24011136448
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24011136448
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 10196
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000326579
  ensembl transcript: ENST00000321143
  gene symbol: HCCS
  hgvsc: ENST00000321143.4:c.402-173T>A
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370140
  ensembl transcript: ENST00000380763
  gene symbol: HCCS
  hgvsc: ENST00000380763.3:c.402-173T>A
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000004961
  ensembl protein: ENSP00000370139
  ensembl transcript: ENST00000380762
  gene symbol: HCCS
  hgvsc: ENST00000380762.4:c.402-173T>A
  variant of: http://identifiers.org/hgnc/4837
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000047648
  ensembl protein: ENSP00000438135
  ensembl transcript: ENST00000534860
  gene symbol: ARHGAP6
  hgvsc: ENST00000534860.1:c.1815A>T
  hgvsp: ENSP00000438135.1:p.Ter605CysextTer12
  variant of: http://identifiers.org/hgnc/676
canonical: false
consequence: stop lost
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9612
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33339
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3046
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31220
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ter605CysextTer12
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS

GenotypeQuality
all individuals: 2939
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 629
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9284
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10005
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.177440244907571e-4
allele num: 8493
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4519
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47810
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6615
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.700741e6

QD
type: SiteQuality
SIO_000300: 1.719e1

VQSLOD
type: SiteQuality
SIO_000300: 2.71e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.801e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6597
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4499
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9891
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9247
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.204242080258981e-5
allele num: 47571
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 623
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.813e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

DP
type: SiteQuality
SIO_000300: 1.688065e6

VQSLOD
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-2

FS
type: SiteQuality
SIO_000300: 2.195e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.44e-1

GenotypeQuality
all individuals: 776
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.011020119300374e-4
allele num: 9891
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4499
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 623
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9247
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47575
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.961e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.02e-1

FS
type: SiteQuality
SIO_000300: 8.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.04e-1

QD
type: SiteQuality
SIO_000300: 2.133e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.99e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 1.687497e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-2

GenotypeQuality
all individuals: 140
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.520218911523259e-4
allele num: 6578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47390
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9840
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

DP
type: SiteQuality
SIO_000300: 1.677296e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

QD
type: SiteQuality
SIO_000300: 3.198e1

MQRankSum
type: SiteQuality
SIO_000300: 7.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

VQSLOD
type: SiteQuality
SIO_000300: -2.849e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.8e-2

GenotypeQuality
all individuals: 1326
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8379
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46677
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.286230693394677e-4
allele num: 9129
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-2

DP
type: SiteQuality
SIO_000300: 1.631888e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.52e-1

FS
type: SiteQuality
SIO_000300: 4.287e0

QD
type: SiteQuality
SIO_000300: 2.163e1

MQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.235e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

GenotypeQuality
all individuals: 267
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 2.190820462263118e-4
allele num: 9129
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8379
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46677
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.52e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.235e0

FS
type: SiteQuality
SIO_000300: 4.287e0

QD
type: SiteQuality
SIO_000300: 2.163e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.631888e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

GenotypeQuality
all individuals: 271
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6255
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4299
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.218229409285508e-5
allele num: 45081
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.934e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.822e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.54e-1

FS
type: SiteQuality
SIO_000300: 2.879e0

DP
type: SiteQuality
SIO_000300: 1.527696e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.003e1

GenotypeQuality
all individuals: 2923
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 2
allele frequency: 2.431019812811474e-4
allele num: 8227
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9361
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 593
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4297
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44976
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.226e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e0

MQRankSum
type: SiteQuality
SIO_000300: -1.83e-1

FS
type: SiteQuality
SIO_000300: 4.843e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e-1

QD
type: SiteQuality
SIO_000300: 1.408e1

MQ
type: SiteQuality
SIO_000300: 5.942e1

DP
type: SiteQuality
SIO_000300: 1.517899e6

GenotypeQuality
all individuals: 1212
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44793
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6199
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South Asian
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European (Finnish)
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Latino
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African
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MQ
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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DP
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FS
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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East Asian
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South Asian
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African
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Other
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European (Non-Finnish)
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Latino
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DP
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VQSLOD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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ClippingRankSum
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GenotypeQuality
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European (Finnish)
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African
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Other
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European (Non-Finnish)
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South Asian
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FS
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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BaseQRankSum
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DP
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GenotypeQuality
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Latino
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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MQRankSum
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ClippingRankSum
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MQ
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BaseQRankSum
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DP
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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QD
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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South Asian
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African
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East Asian
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQ
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VQSLOD
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QD
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DP
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GenotypeQuality
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European (Finnish)
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African
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Latino
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South Asian
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Other
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European (Non-Finnish)
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VQSLOD
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QD
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DP
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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FS
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MQ
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InbreedingCoeff
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BaseQRankSum
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GenotypeQuality
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Other
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South Asian
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European (Finnish)
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East Asian
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European (Non-Finnish)
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African
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FS
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MQRankSum
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InbreedingCoeff
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MQ
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DP
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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African
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European (Finnish)
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Latino
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European (Non-Finnish)
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South Asian
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East Asian
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Other
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ReadPosRankSum
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DP
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MQ
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VQSLOD
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ClippingRankSum
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FS
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QD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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GenotypeQuality
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European (Finnish)
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East Asian
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Latino
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European (Non-Finnish)
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South Asian
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African
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MQRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQ
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ClippingRankSum
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QD
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DP
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GenotypeQuality
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South Asian
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African
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Other
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Latino
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European (Finnish)
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East Asian
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European (Non-Finnish)
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MQRankSum
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ClippingRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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QD
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VQSLOD
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FS
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DP
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GenotypeQuality
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African
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Latino
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European (Finnish)
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East Asian
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South Asian
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Other
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European (Non-Finnish)
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MQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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ClippingRankSum
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DP
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QD
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FS
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ReadPosRankSum
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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East Asian
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South Asian
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African
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MQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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FS
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ReadPosRankSum
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QD
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DP
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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African
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DP
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FS
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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MQ
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QD
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ReadPosRankSum
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GenotypeQuality
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Latino
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European (Finnish)
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African
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European (Non-Finnish)
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South Asian
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DP
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MQ
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VQSLOD
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FS
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.61e0

QD
type: SiteQuality
SIO_000300: 1.697e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

East Asian
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allele count: 4
allele frequency: 6.049606775559589e-4
allele num: 6612
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47873
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.76e-2

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.77e-1

QD
type: SiteQuality
SIO_000300: 1.544e1

FS
type: SiteQuality
SIO_000300: 3.401e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

DP
type: SiteQuality
SIO_000300: 2.65279e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 12

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 2.297602138858718e-4
allele num: 47876
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9306
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.178689297501179e-4
allele num: 8484
num of homozygotes: 0

East Asian
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allele count: 3
allele frequency: 4.536518977771057e-4
allele num: 6613
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.51e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.121e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e-1

DP
type: SiteQuality
SIO_000300: 2.653363e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

QD
type: SiteQuality
SIO_000300: 2.142e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.45e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9309
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8485
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6615
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.088031403992316e-5
allele num: 47892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.99e-1

FS
type: SiteQuality
SIO_000300: 2.691e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

QD
type: SiteQuality
SIO_000300: 1.205e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.96e1

DP
type: SiteQuality
SIO_000300: 2.65356e6

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 9.8833761612967e-5
allele num: 10118
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6622
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8495
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47912
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9311
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.231e1

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

DP
type: SiteQuality
SIO_000300: 2.654896e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.75e-1

FS
type: SiteQuality
SIO_000300: 8.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.533e0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2436
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 6
allele frequency: 5.930025696778019e-4
allele num: 10118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47914
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9311
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6624
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.751e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 2.655084e6

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

FS
type: SiteQuality
SIO_000300: 5.241e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-2

QD
type: SiteQuality
SIO_000300: 2.587e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.55e-1

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8503
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47927
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9314
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6627
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.976479889317126e-4
allele num: 10119
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.69e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.69e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.575e0

DP
type: SiteQuality
SIO_000300: 2.65603e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.89e0

MQRankSum
type: SiteQuality
SIO_000300: -8.36e-1

FS
type: SiteQuality
SIO_000300: 4.912e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.86e0

QD
type: SiteQuality
SIO_000300: 1.786e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9315
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.882399446585631e-5
allele num: 10119
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6628
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47931
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: 4.44e-1

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

DP
type: SiteQuality
SIO_000300: 2.656141e6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6628
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9314
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8505
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10119
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.086245384182088e-5
allele num: 47933
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.9e0

QD
type: SiteQuality
SIO_000300: 1.454e1

MQ
type: SiteQuality
SIO_000300: 5.887e1

DP
type: SiteQuality
SIO_000300: 2.656183e6

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -9.320000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 1.7585e1

VQSLOD
type: SiteQuality
SIO_000300: -2.615e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9318
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.085288291106245e-5
allele num: 47955
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8512
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6632
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.1066e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

DP
type: SiteQuality
SIO_000300: 2.657261e6

MQ
type: SiteQuality
SIO_000300: 5.937e1

VQSLOD
type: SiteQuality
SIO_000300: -1.732e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6632
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10121
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9319
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47965
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

African
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allele frequency: 1.174536058256989e-4
allele num: 8514
num of homozygotes: 0

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.558e0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.17e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.002e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47972
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9318
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 9.878494517435543e-5
allele num: 10123
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8515
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6635
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
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QD
type: SiteQuality
SIO_000300: 3.291e1

MQ
type: SiteQuality
SIO_000300: 5.919e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 8.61e-2

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6635
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9318
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 633
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.084549320436922e-5
allele num: 47972
num of homozygotes: 0

South Asian
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

MQ
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

DP
type: SiteQuality
SIO_000300: 2.658159e6

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
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num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.084636230977694e-5
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Latino
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

VQSLOD
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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num of homozygotes: 0

Latino
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allele frequency: 1.073191672032625e-4
allele num: 9318
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 6.253908692933083e-5
allele num: 47970
num of homozygotes: 0

African
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East Asian
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allele frequency: 3.014318010550113e-4
allele num: 6635
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Other
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allele num: 633
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South Asian
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allele num: 10123
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.066e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.695e0

DP
type: SiteQuality
SIO_000300: 2.658517e6

QD
type: SiteQuality
SIO_000300: 2.005e1

VQSLOD
type: SiteQuality
SIO_000300: 1.214e1

MQRankSum
type: SiteQuality
SIO_000300: -7.7e-2

FS
type: SiteQuality
SIO_000300: 1.127e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.45e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

GenotypeQuality
all individuals: 3071
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.169098640873843e-5
allele num: 47972
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6635
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 6.91494616220488e-4
allele num: 10123
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
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QD
type: SiteQuality
SIO_000300: 2.624e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.16e-1

DP
type: SiteQuality
SIO_000300: 2.658462e6

MQRankSum
type: SiteQuality
SIO_000300: 9.320000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.51e0

FS
type: SiteQuality
SIO_000300: 2.249e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.314e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.140000000000001e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6635
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.073076510355188e-4
allele num: 9319
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10123
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.338544923910778e-5
allele num: 47970
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.56e0

MQRankSum
type: SiteQuality
SIO_000300: 8.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.96e-1

DP
type: SiteQuality
SIO_000300: 2.658392e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.031e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-1

QD
type: SiteQuality
SIO_000300: 1.653e1

MQ
type: SiteQuality
SIO_000300: 5.987e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.8e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6635
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47971
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South Asian
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allele count: 1
allele frequency: 9.878494517435543e-5
allele num: 10123
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.115e0

DP
type: SiteQuality
SIO_000300: 2.658277e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQRankSum
type: SiteQuality
SIO_000300: 4.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.282e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.26e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.32e-1

QD
type: SiteQuality
SIO_000300: 3.14e1

MQ
type: SiteQuality
SIO_000300: 5.907e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

African
type: Population
allele count: 38
allele frequency: 4.464285714285714e-3
allele num: 8512
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.073306858430825e-4
allele num: 9317
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.169707078077765e-5
allele num: 47965
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.879470460383324e-5
allele num: 10122
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
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DP
type: SiteQuality
SIO_000300: 2.659774e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.62e-1

QD
type: SiteQuality
SIO_000300: 1.442e1

VQSLOD
type: SiteQuality
SIO_000300: 7.97e0

MQRankSum
type: SiteQuality
SIO_000300: 2.94e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.301e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.71e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.52e-1

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.357056694813028e-3
allele num: 6632
num of homozygotes: 0

South Asian
type: Population
allele count: 17
allele frequency: 1.679509978265165e-3
allele num: 10122
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9317
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47966
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.491e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

DP
type: SiteQuality
SIO_000300: 2.658547e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.046e1

QD
type: SiteQuality
SIO_000300: 1.703e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.87e-1

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9317
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47963
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6632
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South Asian
type: Population
allele count: 1
allele frequency: 9.880446596186147e-5
allele num: 10121
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.22e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

QD
type: SiteQuality
SIO_000300: 3.367e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.656753e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3013
bin: 8.25e1
variant carriers: 8

GenotypeQuality
all individuals: 2380
bin: 9.25e1
variant carriers: 5

East Asian
type: Population
allele count: 1
allele frequency: 1.510117789187557e-4
allele num: 6622
num of homozygotes: 0

Latino
type: Population
allele count: 83
allele frequency: 8.914187520137472e-3
allele num: 9311
num of homozygotes: 1

South Asian
type: Population
allele count: 68
allele frequency: 6.721360086982307e-3
allele num: 10117
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 46
allele frequency: 1.015901060070671e-2
allele num: 4528
num of homozygotes: 0

Other
type: Population
allele count: 9
allele frequency: 1.421800947867299e-2
allele num: 633
num of homozygotes: 0

African
type: Population
allele count: 31
allele frequency: 3.648775894538606e-3
allele num: 8496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1372
allele frequency: 2.864539836312009e-2
allele num: 47896
num of homozygotes: 12

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.526e-1

DP
type: SiteQuality
SIO_000300: 2.734698e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.9e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.747e1

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.04e-1

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

European (Non-Finnish)
type: Population
allele count: 89
allele frequency: 1.857804867866238e-3
allele num: 47906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6621
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 1.087386318703045e-3
allele num: 10116
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8495
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9311
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
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European (Finnish)
type: Population
allele count: 20
allele frequency: 4.41598586884522e-3
allele num: 4529
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-2

DP
type: SiteQuality
SIO_000300: 2.634695e6

QD
type: SiteQuality
SIO_000300: 1.531e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.536e-1

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 5.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.684e1

MQRankSum
type: SiteQuality
SIO_000300: 1.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.46e-1

GenotypeQuality
all individuals: 2429
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9300
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.092225290819315e-5
allele num: 47796
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8472
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 633
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4527
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.1e-1

FS
type: SiteQuality
SIO_000300: 3.112e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

MQ
type: SiteQuality
SIO_000300: 5.987e1

VQSLOD
type: SiteQuality
SIO_000300: 4.44e-1

DP
type: SiteQuality
SIO_000300: 2.621424e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.135e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.081e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

QD
type: SiteQuality
SIO_000300: 1.251e1

GenotypeQuality
all individuals: 5522
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6567
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4523
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 631
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.213276032779288e-5
allele num: 47469
num of homozygotes: 0

African
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allele count: 0
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num of homozygotes: 0

South Asian
type: Population
allele count: 0
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allele num: 10097
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MQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

DP
type: SiteQuality
SIO_000300: 2.601704e6

VQSLOD
type: SiteQuality
SIO_000300: -2.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.62e-2

QD
type: SiteQuality
SIO_000300: 2.161e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.36e-1

FS
type: SiteQuality
SIO_000300: 3.303e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10095
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4523
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8361
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.10819243580554e-5
allele num: 47434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9278
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 631
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.424e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.414e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.55e-2

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 2.600217e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-2

GenotypeQuality
all individuals: 2415
bin: 9.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47087
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6533
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

African
type: Population
allele count: 31
allele frequency: 3.768538779479698e-3
allele num: 8226
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9262
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

DP
type: SiteQuality
SIO_000300: 2.574492e6

MQ
type: SiteQuality
SIO_000300: 5.978e1

QD
type: SiteQuality
SIO_000300: 1.815e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.29e-2

GenotypeQuality
all individuals: 3018
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.533272002453235e-4
allele num: 6522
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 630
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4513
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46898
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.756e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.555361e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.5e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6491
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.289084280506112e-5
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European (Finnish)
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African
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Other
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South Asian
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VQSLOD
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DP
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FS
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QD
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MQ
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Other
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African
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Latino
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European (Finnish)
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South Asian
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MQ
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QD
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FS
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DP
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VQSLOD
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GenotypeQuality
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European (Finnish)
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Latino
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European (Non-Finnish)
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African
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South Asian
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East Asian
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Other
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VQSLOD
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FS
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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DP
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MQ
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ClippingRankSum
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QD
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GenotypeQuality
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South Asian
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African
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European (Non-Finnish)
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East Asian
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Other
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European (Finnish)
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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FS
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ClippingRankSum
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BaseQRankSum
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MQ
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MQRankSum
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DP
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GenotypeQuality
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African
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Other
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South Asian
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European (Non-Finnish)
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Latino
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East Asian
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European (Finnish)
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DP
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MQRankSum
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MQ
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InbreedingCoeff
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FS
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ClippingRankSum
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ReadPosRankSum
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QD
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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East Asian
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Latino
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African
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South Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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DP
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FS
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MQRankSum
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QD
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InbreedingCoeff
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MQ
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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African
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East Asian
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European (Finnish)
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Latino
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South Asian
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QD
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BaseQRankSum
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MQ
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MQRankSum
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FS
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DP
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Non-Finnish)
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Latino
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South Asian
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European (Finnish)
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Other
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ReadPosRankSum
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FS
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BaseQRankSum
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VQSLOD
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DP
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QD
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MQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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GenotypeQuality
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European (Non-Finnish)
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African
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East Asian
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Latino
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South Asian
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European (Finnish)
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VQSLOD
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DP
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FS
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QD
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MQ
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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GenotypeQuality
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European (Finnish)
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East Asian
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South Asian
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European (Non-Finnish)
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African
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Latino
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MQ
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BaseQRankSum
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MQRankSum
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DP
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VQSLOD
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FS
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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East Asian
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Latino
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European (Finnish)
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African
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BaseQRankSum
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QD
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FS
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MQ
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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VQSLOD
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GenotypeQuality
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European (Non-Finnish)
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African
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East Asian
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South Asian
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Latino
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FS
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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QD
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InbreedingCoeff
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MQ
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MQRankSum
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DP
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GenotypeQuality
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African
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South Asian
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European (Non-Finnish)
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East Asian
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European (Finnish)
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Latino
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MQRankSum
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InbreedingCoeff
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QD
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FS
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ReadPosRankSum
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MQ
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BaseQRankSum
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DP
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VQSLOD
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GenotypeQuality
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South Asian
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Latino
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African
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DP
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InbreedingCoeff
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ClippingRankSum
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MQ
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MQRankSum
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QD
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VQSLOD
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FS
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ReadPosRankSum
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GenotypeQuality
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European (Finnish)
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Other
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African
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Latino
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European (Non-Finnish)
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allele frequency: 4.166753474030709e-5
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East Asian
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South Asian
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MQ
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InbreedingCoeff
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DP
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MQRankSum
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ClippingRankSum
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FS
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BaseQRankSum
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QD
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ReadPosRankSum
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VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.083420142505938e-5
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East Asian
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African
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South Asian
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Other
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ClippingRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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VQSLOD
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FS
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MQRankSum
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QD
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MQ
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.083420142505938e-5
allele num: 47998
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Other
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East Asian
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South Asian
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VQSLOD
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MQRankSum
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InbreedingCoeff
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QD
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FS
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ReadPosRankSum
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MQ
type: SiteQuality
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ClippingRankSum
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DP
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 47840
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East Asian
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Latino
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allele num: 9316
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African
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allele frequency: 1.212121212121212e-4
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
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MQ
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DP
type: SiteQuality
SIO_000300: 2.395279e6

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.114e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4529
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10035
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.093626999413784e-5
allele num: 47764
num of homozygotes: 0

Latino
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East Asian
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African
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allele frequency: 0.0e0
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Other
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VQSLOD
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MQRankSum
type: SiteQuality
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FS
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.385124e6

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 5.9e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 10012
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9306
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.096875655273642e-5
allele num: 47690
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6618
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4527
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.917e1

InbreedingCoeff
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SIO_000300: 1.02e-2

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.088e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4526
num of homozygotes: 0

East Asian
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allele frequency: 1.512630464377553e-4
allele num: 6611
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African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9304
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47677
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10002
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 625
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.253e0

DP
type: SiteQuality
SIO_000300: 2.34756e6

MQ
type: SiteQuality
SIO_000300: 5.157e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.01e-1

QD
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MQRankSum
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

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

Latino
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allele frequency: 0.0e0
allele num: 2446
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 2177
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 11996
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.21e-2

QD
type: SiteQuality
SIO_000300: 1.08e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 1

African
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allele frequency: 0.0e0
allele num: 8044
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
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Latino
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allele frequency: 1.075037626316921e-4
allele num: 9302
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 47617
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DP
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VQSLOD
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QD
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FS
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MQ
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InbreedingCoeff
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 8.888888888888889e-3
allele num: 225
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European (Finnish)
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allele frequency: 0.0e0
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QD
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VQSLOD
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DP
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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FS
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MQ
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BaseQRankSum
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 8.264462809917356e-3
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Latino
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ReadPosRankSum
type: SiteQuality
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FS
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MQ
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ClippingRankSum
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VQSLOD
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DP
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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South Asian
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African
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Latino
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European (Finnish)
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East Asian
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Other
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DP
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MQRankSum
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MQ
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QD
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FS
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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African
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East Asian
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South Asian
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Latino
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European (Non-Finnish)
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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ClippingRankSum
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DP
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ReadPosRankSum
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FS
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