X-47070653-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047070653
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047070653
    reference: chr 0
allele count: 1
allele frequency: 1.184567455193736e-5
allele num: 84419
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2464+29G>C
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.808+29G>C
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2464+29G>C
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1967
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

X-47070657-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047070657
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047070657
    reference: chr 0
allele count: 4
allele frequency: 4.79351916209285e-5
allele num: 83446
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2464+33C>T
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2464+33C>T
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.808+33C>T
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
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site quality: ClippingRankSum

X-47070660-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047070660
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047070660
    reference: chr 0
allele count: 3
allele frequency: 3.597165433638293e-5
allele num: 83399
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2464+36C>G
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2464+36C>G
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.808+36C>G
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ

X-47070664-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047070664
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047070664
    reference: chr 0
allele count: 1
allele frequency: 1.204804761388417e-5
allele num: 83001
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2464+40T>G
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.808+40T>G
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2464+40T>G
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3721
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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: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

X-47070670-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047070670
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047070670
    reference: chr 0
allele count: 3
allele frequency: 3.705442059237667e-5
allele num: 80962
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2464+46C>T
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.808+46C>T
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
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  variant of: http://identifiers.org/hgnc/12469
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 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: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
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site quality: FS
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X-47070671-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047070671
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047070671
    reference: chr 0
allele count: 2
allele frequency: 2.470447274479044e-5
allele num: 80957
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2464+47G>A
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.808+47G>A
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2464+47G>A
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: intron
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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: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
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site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
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site quality: QD

X-47070671-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047070671
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047070671
    reference: chr 0
allele count: 2
allele frequency: 2.470447274479044e-5
allele num: 80957
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2464+47G>C
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.808+47G>C
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
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  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2464+47G>C
  variant of: http://identifiers.org/hgnc/12469
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: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
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X-47071789-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047071789
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047071790
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 68348
alternate allele: CT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2465-33dupT
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.809-33dupT
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2465-33dupT
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

X-47071791-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047071791
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047071791
    reference: chr 0
allele count: 1
allele frequency: 1.456897682075788e-5
allele num: 68639
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2465-32A>G
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2465-32A>G
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.809-32A>G
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5924
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

X-47071796-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047071796
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047071796
    reference: chr 0
allele count: 2
allele frequency: 2.873563218390804e-5
allele num: 69600
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2465-27G>T
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2465-27G>T
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.809-27G>T
  variant of: http://identifiers.org/hgnc/12469
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 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: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
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site quality: MQ

X-47071799-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047071799
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047071799
    reference: chr 0
allele count: 1
allele frequency: 1.420192294036613e-5
allele num: 70413
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.809-24G>C
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2465-24G>C
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2465-24G>C
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
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site quality: ClippingRankSum

X-47071805-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047071805
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047071805
    reference: chr 0
allele count: 1
allele frequency: 1.382208215845635e-5
allele num: 72348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.809-18G>A
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2465-18G>A
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2465-18G>A
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2420
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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: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP

X-47071807-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047071807
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047071807
    reference: chr 0
allele count: 1
allele frequency: 1.370632821173536e-5
allele num: 72959
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.809-16C>T
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2465-16C>T
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2465-16C>T
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1409
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 261
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2505
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 437
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 392
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genotype quality: GenotypeQuality
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3133
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

X-47071831-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047071831
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047071831
    reference: chr 0
allele count: 1
allele frequency: 1.267073819720737e-5
allele num: 78922
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2473C>T
  hgvsp: ENSP00000338413.6:p.Arg825Cys
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.817C>T
  hgvsp: ENSP00000366481.3:p.Arg273Cys
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2473C>T
  hgvsp: ENSP00000366568.4:p.Arg825Cys
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8398
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genotype depth: GenotypeDepth
  all individuals: 50
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9286
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genotype depth: GenotypeDepth
  all individuals: 1121
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 229
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 268
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3137
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genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg825Cys
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP

X-47071832-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047071832
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047071832
    reference: chr 0
allele count: 1
allele frequency: 1.261781888382774e-5
allele num: 79253
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.818G>A
  hgvsp: ENSP00000366481.3:p.Arg273His
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2474G>A
  hgvsp: ENSP00000338413.6:p.Arg825His
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2474G>A
  hgvsp: ENSP00000366568.4:p.Arg825His
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
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genotype depth: GenotypeDepth
  all individuals: 50
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1051
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg825His
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ

X-47071834-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047071834
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047071834
    reference: chr 0
allele count: 2
allele frequency: 2.510890989667683e-5
allele num: 79653
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2476C>T
  hgvsp: ENST00000335972.6:c.2476C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.820C>T
  hgvsp: ENST00000377269.3:c.820C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2476C>T
  hgvsp: ENST00000377351.4:c.2476C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 1141
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  variant carriers: 0
hgvs: p.Leu826Leu
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

X-47071862-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047071862
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047071862
    reference: chr 0
allele count: 1
allele frequency: 1.223331376003132e-5
allele num: 81744
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2504G>A
  hgvsp: ENSP00000366568.4:p.Ser835Asn
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.848G>A
  hgvsp: ENSP00000366481.3:p.Ser283Asn
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2504G>A
  hgvsp: ENSP00000338413.6:p.Ser835Asn
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 510
  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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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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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser835Asn
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

X-47071875-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047071875
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047071875
    reference: chr 0
allele count: 5
allele frequency: 6.154300625276944e-5
allele num: 81244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2517C>A
  hgvsp: ENST00000377351.4:c.2517C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.861C>A
  hgvsp: ENST00000377269.3:c.861C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2517C>A
  hgvsp: ENST00000335972.6:c.2517C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32219
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1142
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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
  all individuals: 3376
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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
  all individuals: 510
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genotype depth: GenotypeDepth
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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: 129
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3138
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 437
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu839Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

X-47071880-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047071880
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047071880
    reference: chr 0
allele count: 1
allele frequency: 1.23806811850788e-5
allele num: 80771
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.866G>T
  hgvsp: ENSP00000366481.3:p.Gly289Val
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2522G>T
  hgvsp: ENSP00000338413.6:p.Gly841Val
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2522G>T
  hgvsp: ENSP00000366568.4:p.Gly841Val
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6663
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
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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: 4082
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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
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly841Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

X-47072131-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072131
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072131
    reference: chr 0
allele count: 3
allele frequency: 4.78522323066371e-5
allele num: 62693
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.898-39C>T
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2554-39C>T
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2554-39C>T
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18046
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1392
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

X-47072146-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072146
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072146
    reference: chr 0
allele count: 1
allele frequency: 1.486568850436308e-5
allele num: 67269
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2554-24T>G
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2554-24T>G
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.898-24T>G
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8888
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
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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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  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

X-47072147-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072147
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072147
    reference: chr 0
allele count: 1
allele frequency: 1.478852410529429e-5
allele num: 67620
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2554-23C>T
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2554-23C>T
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.898-23C>T
  variant of: http://identifiers.org/hgnc/12469
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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
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site quality: MQ

X-47072149-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072149
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072149
    reference: chr 0
allele count: 6
allele frequency: 8.797911962227631e-5
allele num: 68198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.898-21C>T
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2554-21C>T
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2554-21C>T
  variant of: http://identifiers.org/hgnc/12469
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 quality: GenotypeQuality
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num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
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X-47072162-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072162
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072162
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 72893
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2554-8C>T
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.898-8C>T
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2554-8C>T
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
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.2554-8C>T
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
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X-47072178-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072178
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072178
    reference: chr 0
allele count: 1
allele frequency: 1.290755608333118e-5
allele num: 77474
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2562C>G
  hgvsp: ENSP00000366568.4:p.Asp854Glu
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2562C>G
  hgvsp: ENSP00000338413.6:p.Asp854Glu
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
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  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
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  hgvsp: ENSP00000366481.3:p.Asp302Glu
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Asp854Glu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
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population: Other
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reference allele: C
site quality: FS
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site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

X-47072183-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072183
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072183
    reference: chr 0
allele count: 1
allele frequency: 1.269116060663748e-5
allele num: 78795
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2567A>G
  hgvsp: ENSP00000338413.6:p.Asn856Ser
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2567A>G
  hgvsp: ENSP00000366568.4:p.Asn856Ser
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.911A>G
  hgvsp: ENSP00000366481.3:p.Asn304Ser
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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.Asn856Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

X-47072184-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072184
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072184
    reference: chr 0
allele count: 1
allele frequency: 1.266111265858044e-5
allele num: 78982
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2568C>T
  hgvsp: ENST00000335972.6:c.2568C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2568C>T
  hgvsp: ENST00000377351.4:c.2568C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.912C>T
  hgvsp: ENST00000377269.3:c.912C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: synonymous
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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Asn856Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ

X-47072191-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072191
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072191
    reference: chr 0
allele count: 1
allele frequency: 1.247162704846474e-5
allele num: 80182
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.919A>G
  hgvsp: ENSP00000366481.3:p.Met307Val
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2575A>G
  hgvsp: ENSP00000366568.4:p.Met859Val
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2575A>G
  hgvsp: ENSP00000338413.6:p.Met859Val
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 692
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  variant carriers: 0
genotype depth: GenotypeDepth
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hgvs: p.Met859Val
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

X-47072199-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072199
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072199
    reference: chr 0
allele count: 1
allele frequency: 1.231117731788691e-5
allele num: 81227
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.927C>T
  hgvsp: ENST00000377269.3:c.927C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2583C>T
  hgvsp: ENST00000377351.4:c.2583C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2583C>T
  hgvsp: ENST00000335972.6:c.2583C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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hgvs: p.Phe861Phe
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

X-47072202-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072202
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072202
    reference: chr 0
allele count: 3
allele frequency: 3.675614746566363e-5
allele num: 81619
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2586C>T
  hgvsp: ENST00000377351.4:c.2586C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.930C>T
  hgvsp: ENST00000377269.3:c.930C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2586C>T
  hgvsp: ENST00000335972.6:c.2586C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 607
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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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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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8792
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Ile862Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

X-47072211-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072211
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072211
    reference: chr 0
allele count: 84
allele frequency: 1.017096914806025e-3
allele num: 82588
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2595A>G
  hgvsp: ENST00000335972.6:c.2595A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2595A>G
  hgvsp: ENST00000377351.4:c.2595A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.939A>G
  hgvsp: ENST00000377269.3:c.939A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 69
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 5814
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Ala865Ala
num of homozygotes: 1
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum

X-47072211-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072211
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072211
    reference: chr 0
allele count: 1
allele frequency: 1.210829660483363e-5
allele num: 82588
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2595A>T
  hgvsp: ENST00000377351.4:c.2595A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2595A>T
  hgvsp: ENST00000335972.6:c.2595A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.939A>T
  hgvsp: ENST00000377269.3:c.939A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
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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: 722
  bin: 5.25e1
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  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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  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1377
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
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  variant carriers: 0
hgvs: p.Ala865Ala
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

X-47072224-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072224
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072224
    reference: chr 0
allele count: 1
allele frequency: 1.20297857495158e-5
allele num: 83127
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2608G>T
  hgvsp: ENSP00000366568.4:p.Ala870Ser
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.952G>T
  hgvsp: ENSP00000366481.3:p.Ala318Ser
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2608G>T
  hgvsp: ENSP00000338413.6:p.Ala870Ser
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1337
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala870Ser
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

X-47072242-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072242
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072242
    reference: chr 0
allele count: 3
allele frequency: 3.59401955146636e-5
allele num: 83472
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2626C>T
  hgvsp: ENSP00000366568.4:p.Pro876Ser
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2626C>T
  hgvsp: ENSP00000338413.6:p.Pro876Ser
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.970C>T
  hgvsp: ENSP00000366481.3:p.Pro324Ser
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Pro876Ser
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

X-47072247-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072247
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072247
    reference: chr 0
allele count: 1
allele frequency: 1.197848663799816e-5
allele num: 83483
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2631T>C
  hgvsp: ENST00000335972.6:c.2631T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.975T>C
  hgvsp: ENST00000377269.3:c.975T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2631T>C
  hgvsp: ENST00000377351.4:c.2631T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 691
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  variant carriers: 0
hgvs: p.Ser877Ser
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP

X-47072254-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072254
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072254
    reference: chr 0
allele count: 1
allele frequency: 1.199400299850075e-5
allele num: 83375
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2638C>T
  hgvsp: ENSP00000366568.4:p.Arg880Trp
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2638C>T
  hgvsp: ENSP00000338413.6:p.Arg880Trp
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.982C>T
  hgvsp: ENSP00000366481.3:p.Arg328Trp
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Arg880Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum

X-47072273-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072273
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072273
    reference: chr 0
allele count: 8
allele frequency: 9.624639076034648e-5
allele num: 83120
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2646+11T>A
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.990+11T>A
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2646+11T>A
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8453
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

X-47072273-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072273
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072273
    reference: chr 0
allele count: 3
allele frequency: 3.609239653512993e-5
allele num: 83120
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2646+11T>C
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.990+11T>C
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2646+11T>C
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3591
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

X-47072284-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072284
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072284
    reference: chr 0
allele count: 2
allele frequency: 2.412516133701644e-5
allele num: 82901
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.990+22T>C
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2646+22T>C
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2646+22T>C
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: intron
filter: PASS
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
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

X-47072295-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072295
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072295
    reference: chr 0
allele count: 4
allele frequency: 4.838221953432113e-5
allele num: 82675
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2646+33C>T
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.990+33C>T
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2646+33C>T
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP

X-47072301-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072301
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072301
    reference: chr 0
allele count: 1
allele frequency: 1.21052185597211e-5
allele num: 82609
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2646+39G>T
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2646+39G>T
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.990+39G>T
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ

X-47072341-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072341
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072341
    reference: chr 0
allele count: 2
allele frequency: 2.319001901581559e-5
allele num: 86244
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2647-48G>C
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.991-48G>C
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2647-48G>C
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20555
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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 quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
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X-47072342-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072342
    reference: chr 0
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    type: ExactPosition
    position: 24047072342
    reference: chr 0
allele count: 1
allele frequency: 1.159460618920078e-5
allele num: 86247
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.991-47G>T
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2647-47G>T
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2647-47G>T
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: intron
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genotype quality: GenotypeQuality
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population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
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X-47072343-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072343
    reference: chr 0
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    type: ExactPosition
    position: 24047072343
    reference: chr 0
allele count: 2
allele frequency: 2.319566704939517e-5
allele num: 86223
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2647-46C>T
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2647-46C>T
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
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  variant of: http://identifiers.org/hgnc/12469
canonical: true
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genotype depth: GenotypeDepth
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num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
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site quality: MQRankSum
site quality: DP
site quality: MQ
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X-47072348-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072348
    reference: chr 0
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    type: ExactPosition
    position: 24047072348
    reference: chr 0
allele count: 1
allele frequency: 1.158574027087461e-5
allele num: 86313
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.991-41G>A
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2647-41G>A
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
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  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
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  variant of: http://identifiers.org/hgnc/12469
canonical: true
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genotype depth: GenotypeDepth
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num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
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site quality: MQRankSum
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X-47072351-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072351
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072351
    reference: chr 0
allele count: 1
allele frequency: 1.158010537895895e-5
allele num: 86355
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.991-38C>T
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2647-38C>T
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2647-38C>T
  variant of: http://identifiers.org/hgnc/12469
canonical: true
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2819
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7410
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1746
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ

X-47072360-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072360
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072360
    reference: chr 0
allele count: 1
allele frequency: 1.156390212313243e-5
allele num: 86476
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2647-29C>T
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.991-29C>T
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2647-29C>T
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
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genotype depth: GenotypeDepth
  all individuals: 100
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
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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
  all individuals: 282
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

X-47072361-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072361
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072360
    reference: chr 0
allele count: 1
allele frequency: 1.155454902595152e-5
allele num: 86546
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2647-26delC
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2647-26delC
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.991-26delC
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21847
  bin: 2.75e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  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: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  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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  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
  all individuals: 1000
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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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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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: AC
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP

X-47072362-CCTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072362
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072359
    reference: chr 0
allele count: 1
allele frequency: 1.15480108551302e-5
allele num: 86595
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2647-23_2647-21delCTT
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2647-23_2647-21delCTT
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.991-23_991-21delCTT
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
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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
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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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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  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: 3.75e1
  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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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: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1790
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: CCTT
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

X-47072371-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072371
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072371
    reference: chr 0
allele count: 1
allele frequency: 1.151383963524156e-5
allele num: 86852
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2647-18G>C
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.991-18G>C
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2647-18G>C
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21730
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  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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  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: 278
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

X-47072375-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072375
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072375
    reference: chr 0
allele count: 1
allele frequency: 1.149425287356322e-5
allele num: 87000
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2647-14C>T
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2647-14C>T
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.991-14C>T
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22890
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
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  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

X-47072395-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072395
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072395
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 87335
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2653C>A
  hgvsp: ENSP00000338413.6:p.Leu885Met
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.997C>A
  hgvsp: ENSP00000366481.3:p.Leu333Met
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2653C>A
  hgvsp: ENSP00000366568.4:p.Leu885Met
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9210
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23769
  bin: 2.75e1
  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
  all individuals: 24
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu885Met
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

X-47072403-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072403
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072403
    reference: chr 0
allele count: 8
allele frequency: 9.153737013135612e-5
allele num: 87396
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2661A>G
  hgvsp: ENST00000335972.6:c.2661A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2661A>G
  hgvsp: ENST00000377351.4:c.2661A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.1005A>G
  hgvsp: ENST00000377269.3:c.1005A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 238
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  variant carriers: 0
hgvs: p.Ala887Ala
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

X-47072406-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072406
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072406
    reference: chr 0
allele count: 1
allele frequency: 1.144020775417282e-5
allele num: 87411
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2664G>A
  hgvsp: ENST00000377351.4:c.2664G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2664G>A
  hgvsp: ENST00000335972.6:c.2664G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.1008G>A
  hgvsp: ENST00000377269.3:c.1008G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 323
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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 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: 44968
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly888Gly
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

X-47072410-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072410
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072410
    reference: chr 0
allele count: 1
allele frequency: 1.143680592884019e-5
allele num: 87437
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2668A>G
  hgvsp: ENSP00000338413.6:p.Ile890Val
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.1012A>G
  hgvsp: ENSP00000366481.3:p.Ile338Val
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2668A>G
  hgvsp: ENSP00000366568.4:p.Ile890Val
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9216
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genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
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genotype depth: GenotypeDepth
  all individuals: 1670
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
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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: 240
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 8193
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1918
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44913
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 902
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genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile890Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

X-47072414-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072414
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072414
    reference: chr 0
allele count: 1
allele frequency: 1.14727579362803e-5
allele num: 87163
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.1016T>C
  hgvsp: ENSP00000366481.3:p.Ile339Thr
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2672T>C
  hgvsp: ENSP00000338413.6:p.Ile891Thr
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2672T>C
  hgvsp: ENSP00000366568.4:p.Ile891Thr
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22894
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 8125
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 266
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 765
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  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 289
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genotype quality: GenotypeQuality
  all individuals: 547
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genotype quality: GenotypeQuality
  all individuals: 251
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44529
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.75e1
  variant carriers: 1
hgvs: p.Ile891Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

X-47072430-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072430
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072430
    reference: chr 0
allele count: 1
allele frequency: 1.143053094816254e-5
allele num: 87485
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2688G>A
  hgvsp: ENST00000335972.6:c.2688G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2688G>A
  hgvsp: ENST00000377351.4:c.2688G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.1032G>A
  hgvsp: ENST00000377269.3:c.1032G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  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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genotype depth: GenotypeDepth
  all individuals: 496
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
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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
  all individuals: 197
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 176
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genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr896Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

X-47072442-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072442
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072442
    reference: chr 0
allele count: 1
allele frequency: 1.143353685028927e-5
allele num: 87462
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2700C>T
  hgvsp: ENST00000377351.4:c.2700C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2700C>T
  hgvsp: ENST00000335972.6:c.2700C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.1044C>T
  hgvsp: ENST00000377269.3:c.1044C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 2.25e1
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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
  all individuals: 198
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8202
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genotype quality: GenotypeQuality
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 44707
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala900Ala
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

X-47072444-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072444
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072444
    reference: chr 0
allele count: 1
allele frequency: 1.143405977726452e-5
allele num: 87458
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2702T>C
  hgvsp: ENSP00000366568.4:p.Val901Ala
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.1046T>C
  hgvsp: ENSP00000366481.3:p.Val349Ala
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2702T>C
  hgvsp: ENSP00000338413.6:p.Val901Ala
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1594
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8204
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44534
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1864
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val901Ala
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ

X-47072455-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072455
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072455
    reference: chr 0
allele count: 2
allele frequency: 2.287282708142727e-5
allele num: 87440
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2713G>C
  hgvsp: ENSP00000366568.4:p.Val905Leu
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2713G>C
  hgvsp: ENSP00000338413.6:p.Val905Leu
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.1057G>C
  hgvsp: ENSP00000366481.3:p.Val353Leu
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25068
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 242
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1849
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genotype quality: GenotypeQuality
  all individuals: 1572
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8153
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
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genotype quality: GenotypeQuality
  all individuals: 210
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genotype quality: GenotypeQuality
  all individuals: 44693
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genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val905Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum

X-47072466-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072466
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072466
    reference: chr 0
allele count: 3
allele frequency: 3.433594286499107e-5
allele num: 87372
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2724G>A
  hgvsp: ENST00000335972.6:c.2724G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.1068G>A
  hgvsp: ENST00000377269.3:c.1068G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2724G>A
  hgvsp: ENST00000377351.4:c.2724G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25036
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
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genotype depth: GenotypeDepth
  all individuals: 95
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 243
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genotype quality: GenotypeQuality
  all individuals: 44169
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu908Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

X-47072475-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072475
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072475
    reference: chr 0
allele count: 1
allele frequency: 1.145554104520356e-5
allele num: 87294
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2733G>A
  hgvsp: ENST00000335972.6:c.2733G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.1077G>A
  hgvsp: ENST00000377269.3:c.1077G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2733G>A
  hgvsp: ENST00000377351.4:c.2733G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 25192
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 437
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21373
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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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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 361
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys911Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum

X-47072481-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072481
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072481
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 87259
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2739G>A
  hgvsp: ENST00000335972.6:c.2739G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2739G>A
  hgvsp: ENST00000377351.4:c.2739G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.1083G>A
  hgvsp: ENST00000377269.3:c.1083G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21297
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9139
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25236
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val913Val
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

X-47072492-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072492
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072492
    reference: chr 0
allele count: 1
allele frequency: 1.147894761008311e-5
allele num: 87116
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2750G>A
  hgvsp: ENSP00000338413.6:p.Arg917Gln
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.1094G>A
  hgvsp: ENSP00000366481.3:p.Arg365Gln
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2750G>A
  hgvsp: ENSP00000366568.4:p.Arg917Gln
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 881
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21015
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25299
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7887
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg917Gln
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

X-47072496-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072496
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072496
    reference: chr 0
allele count: 2
allele frequency: 2.295868584482224e-5
allele num: 87113
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2754G>C
  hgvsp: ENSP00000366568.4:p.Gln918His
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2754G>C
  hgvsp: ENSP00000338413.6:p.Gln918His
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.1098G>C
  hgvsp: ENSP00000366481.3:p.Gln366His
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1526
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  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: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 493
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43807
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genotype quality: GenotypeQuality
  all individuals: 454
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genotype quality: GenotypeQuality
  all individuals: 1191
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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: 273
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7896
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln918His
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS

X-47072517-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072517
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072517
    reference: chr 0
allele count: 1
allele frequency: 1.152671315774307e-5
allele num: 86755
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.1119T>C
  hgvsp: ENST00000377269.3:c.1119T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2775T>C
  hgvsp: ENST00000377351.4:c.2775T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2775T>C
  hgvsp: ENST00000335972.6:c.2775T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
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genotype depth: GenotypeDepth
  all individuals: 8979
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24865
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1505
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7799
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1728
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 419
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genotype quality: GenotypeQuality
  all individuals: 1768
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42713
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 391
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 821
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Gly925Gly
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP

X-47072533-C-CTTTCATGCAGATGACAGTCGTCTAGAGGAGCTCAAAGCCACTCTGCCCAGCCCAGACAAGCTCCCTGGATTCAAGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072533
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072609
    reference: chr 0
allele count: 1
allele frequency: 1.157139551029854e-5
allele num: 86420
alternate allele: CTTTCATGCAGATGACAGTCGTCTAGAGGAGCTCAAAGCCACTCTGCCCAGCCCAGACAAGCTCCCTGGATTCAAGA
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsp: ENSP00000338413.6:p.Pro932SerfsTer4
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsp: ENSP00000366568.4:p.Pro932SerfsTer4
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: stop_gained
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsp: ENSP00000366481.3:p.Pro380SerfsTer4
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: stop gained
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43550
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7713
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1697
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro932SerfsTer4
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

X-47072535-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072535
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072535
    reference: chr 0
allele count: 1
allele frequency: 1.158614297300429e-5
allele num: 86310
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2793G>A
  hgvsp: ENST00000335972.6:c.2793G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.1137G>A
  hgvsp: ENST00000377269.3:c.1137G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2793G>A
  hgvsp: ENST00000377351.4:c.2793G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24672
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  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: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 3.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43074
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  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
  all individuals: 587
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu931Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

X-47072535-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072535
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072535
    reference: chr 0
allele count: 17
allele frequency: 1.969644305410729e-4
allele num: 86310
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2793G>T
  hgvsp: ENST00000335972.6:c.2793G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2793G>T
  hgvsp: ENST00000377351.4:c.2793G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.1137G>T
  hgvsp: ENST00000377269.3:c.1137G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8956
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20559
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 24672
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 465
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  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
  all individuals: 474
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genotype quality: GenotypeQuality
  all individuals: 1472
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genotype quality: GenotypeQuality
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu931Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

X-47072555-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072555
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072555
    reference: chr 0
allele count: 2
allele frequency: 2.349265267287656e-5
allele num: 85133
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2813A>G
  hgvsp: ENSP00000338413.6:p.Glu938Gly
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2813A>G
  hgvsp: ENSP00000366568.4:p.Glu938Gly
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.1157A>G
  hgvsp: ENSP00000366481.3:p.Glu386Gly
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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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
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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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
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  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
  all individuals: 1408
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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: 229
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu938Gly
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum

X-47072565-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072565
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072565
    reference: chr 0
allele count: 1
allele frequency: 1.198968886757389e-5
allele num: 83405
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2823C>T
  hgvsp: ENST00000335972.6:c.2823C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2823C>T
  hgvsp: ENST00000377351.4:c.2823C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.1167C>T
  hgvsp: ENST00000377269.3:c.1167C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22418
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36495
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8324
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1338
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6818
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala941Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD

X-47072573-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072573
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072573
    reference: chr 0
allele count: 2
allele frequency: 2.436587802441461e-5
allele num: 82082
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2831G>A
  hgvsp: ENSP00000338413.6:p.Arg944His
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.1175G>A
  hgvsp: ENSP00000366481.3:p.Arg392His
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2831G>A
  hgvsp: ENSP00000366568.4:p.Arg944His
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  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: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7970
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 7.75e1
  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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6277
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
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genotype quality: GenotypeQuality
  all individuals: 213
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genotype quality: GenotypeQuality
  all individuals: 1374
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1423
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33589
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg944His
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

X-47072588-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072588
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072588
    reference: chr 0
allele count: 10
allele frequency: 1.271051795360661e-4
allele num: 78675
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2838+8C>A
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.1182+8C>A
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2838+8C>A
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17533
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8841
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7674
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 25427
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2149
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
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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
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 8.25e1
  variant carriers: 0
hgvs: c.2838+8C>A
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

X-47072590-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072590
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072590
    reference: chr 0
allele count: 1
allele frequency: 1.281377737343191e-5
allele num: 78041
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2838+10T>C
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2838+10T>C
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.1182+10T>C
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7906
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
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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: 16847
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8089
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  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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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 701
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

X-47072591-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072591
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072591
    reference: chr 0
allele count: 1
allele frequency: 1.295068379610443e-5
allele num: 77216
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2838+11G>A
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2838+11G>A
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.1182+11G>A
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21575
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2666
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4704
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20415
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

X-47072592-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072592
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072592
    reference: chr 0
allele count: 1
allele frequency: 1.295387126442737e-5
allele num: 77197
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366481
  ensembl transcript: ENST00000377269
  gene symbol: UBA1
  hgvsc: ENST00000377269.3:c.1182+12C>T
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000338413
  ensembl transcript: ENST00000335972
  gene symbol: UBA1
  hgvsc: ENST00000335972.6:c.2838+12C>T
  variant of: http://identifiers.org/hgnc/12469
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130985
  ensembl protein: ENSP00000366568
  ensembl transcript: ENST00000377351
  gene symbol: UBA1
  hgvsc: ENST00000377351.4:c.2838+12C>T
  variant of: http://identifiers.org/hgnc/12469
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6925
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  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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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 940
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2627
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 288
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4670
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

X-47072595-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24047072595
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24047072595
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 76650
alternate allele: T
canonical: true
consequence: intron
filter: AC_Adj0_Filter
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 976
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4307
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8205
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.168068684415922e-5
allele num: 46124
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9098
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 605
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9690
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.46e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.19e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.8e-1

QD
type: SiteQuality
SIO_000300: 1.87e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.225e0

DP
type: SiteQuality
SIO_000300: 1.704536e6

GenotypeQuality
all individuals: 4324
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9000
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4251
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8111
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9587
num of homozygotes: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 6.31811720107408e-4
allele num: 6331
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45570
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.622e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.99e-1

DP
type: SiteQuality
SIO_000300: 1.617739e6

VQSLOD
type: SiteQuality
SIO_000300: 6.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

QD
type: SiteQuality
SIO_000300: 1.531e1

MQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.31e-1

GenotypeQuality
all individuals: 1843
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9002
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.583029919265474e-4
allele num: 6317
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45543
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.463357556349304e-4
allele num: 8119
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4245
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9575
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.03e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

QD
type: SiteQuality
SIO_000300: 2.496e1

VQSLOD
type: SiteQuality
SIO_000300: -1.286e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

DP
type: SiteQuality
SIO_000300: 1.61413e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4608
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6294
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.114454474534715e-4
allele num: 8973
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8069
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45315
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4222
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.58549e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -8.087e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.983e0

QD
type: SiteQuality
SIO_000300: 1.272e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-2

GenotypeQuality
all individuals: 3523
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4110
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.071007818357074e-4
allele num: 9337
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.530113932365399e-5
allele num: 44149
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8789
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7910
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6090
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 577
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.96e-1

QD
type: SiteQuality
SIO_000300: 2.47e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

DP
type: SiteQuality
SIO_000300: 1.536062e6

VQSLOD
type: SiteQuality
SIO_000300: -1.418e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

GenotypeQuality
all individuals: 3511
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 2.275830678197542e-4
allele num: 8788
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4109
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7915
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44115
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9331
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6121
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.395e0

DP
type: SiteQuality
SIO_000300: 1.533104e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.53e-1

QD
type: SiteQuality
SIO_000300: 1.625e1

GenotypeQuality
all individuals: 1165
bin: 7.5e0
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.533605349654313e-5
allele num: 44115
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4109
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7915
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9331
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6121
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.14e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.395e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

DP
type: SiteQuality
SIO_000300: 1.533104e6

QD
type: SiteQuality
SIO_000300: 1.625e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e-1

GenotypeQuality
all individuals: 956
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7461
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7655
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3331
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36729
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5380
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

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

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

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

European (Non-Finnish)
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European (Finnish)
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Latino
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African
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South Asian
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Other
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East Asian
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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FS
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BaseQRankSum
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DP
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MQ
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GenotypeQuality
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Latino
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African
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European (Non-Finnish)
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European (Finnish)
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South Asian
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East Asian
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Other
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BaseQRankSum
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QD
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FS
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MQ
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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DP
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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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Latino
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European (Finnish)
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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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VQSLOD
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MQRankSum
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ReadPosRankSum
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DP
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FS
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BaseQRankSum
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MQ
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QD
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InbreedingCoeff
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GenotypeQuality
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East Asian
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European (Finnish)
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Latino
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Other
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European (Non-Finnish)
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African
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South Asian
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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FS
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MQRankSum
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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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South Asian
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European (Non-Finnish)
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Other
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Latino
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African
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East Asian
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European (Finnish)
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VQSLOD
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MQRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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QD
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MQ
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ClippingRankSum
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DP
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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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African
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European (Non-Finnish)
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Latino
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South Asian
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Other
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VQSLOD
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MQ
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InbreedingCoeff
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BaseQRankSum
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FS
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DP
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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QD
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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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South Asian
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European (Non-Finnish)
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East Asian
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ClippingRankSum
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VQSLOD
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QD
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MQ
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FS
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MQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
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GenotypeQuality
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South Asian
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Latino
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European (Non-Finnish)
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African
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3050
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.548125e6

MQRankSum
type: SiteQuality
SIO_000300: -1.033e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.928e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 9.699999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -2.355e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.182e0

MQ
type: SiteQuality
SIO_000300: 5.744e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7079
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5480
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7403
num of homozygotes: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 1.626412946247052e-4
allele num: 36891
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7783
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.561336e6

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

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.981e1

VQSLOD
type: SiteQuality
SIO_000300: 2.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.83e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7450
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 8147
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5805
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 39655
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3380
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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MQRankSum
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VQSLOD
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InbreedingCoeff
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SIO_000300: 0.0e0

MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.653623e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3682
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8515
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7830
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8457
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.363619173678737e-5
allele num: 42308
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 553
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.778e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.19e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

QD
type: SiteQuality
SIO_000300: 1.09e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.53e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.73979e6

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
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allele count: 1
allele frequency: 1.262785705265816e-4
allele num: 7919
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8589
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3769
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 43094
num of homozygotes: 0

South Asian
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East Asian
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 569
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

FS
type: SiteQuality
SIO_000300: 1.241e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

DP
type: SiteQuality
SIO_000300: 1.764589e6

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.977e1

VQSLOD
type: SiteQuality
SIO_000300: 2.3e0

QD
type: SiteQuality
SIO_000300: 1.225e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.42e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6237
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3788
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7925
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 43199
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.15460108532502e-4
allele num: 8661
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Other
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8601
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.768921e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.0e-2

QD
type: SiteQuality
SIO_000300: 3.203e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele count: 1
allele frequency: 1.25203455615375e-4
allele num: 7987
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8801
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3865
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8723
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6313
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 43910
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Other
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.341e0

QD
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.915e1

MQRankSum
type: SiteQuality
SIO_000300: 7.77e-1

DP
type: SiteQuality
SIO_000300: 1.792051e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 9.5e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3950
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8828
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.24678709445493e-5
allele num: 44508
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.699e0

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.203e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.881e-1

MQ
type: SiteQuality
SIO_000300: 5.927e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.739e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3977
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8064
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South Asian
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allele count: 1
allele frequency: 1.111605157847932e-4
allele num: 8996
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 593
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.235935962794025e-5
allele num: 44724
num of homozygotes: 0

Latino
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allele frequency: 1.128031584884377e-4
allele num: 8865
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 6400
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QD
type: SiteQuality
SIO_000300: 1.4e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

DP
type: SiteQuality
SIO_000300: 1.821994e6

GenotypeQuality
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bin: 5.25e1
variant carriers: 2

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

African
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allele frequency: 1.021161417322835e-2
allele num: 8128
num of homozygotes: 1

East Asian
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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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Latino
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allele frequency: 1.120448179271709e-4
allele num: 8925
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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
allele num: 45287
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.615e-1

ClippingRankSum
type: SiteQuality
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BaseQRankSum
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DP
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 596
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European (Non-Finnish)
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allele frequency: 2.208139201095237e-5
allele num: 45287
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4079
num of homozygotes: 0

InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
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DP
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MQ
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
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Other
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allele count: 0
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East Asian
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allele frequency: 1.549907005579665e-4
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
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 count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

MQ
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MQRankSum
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
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South Asian
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allele num: 9291
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Latino
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allele frequency: 1.10938540048813e-4
allele num: 9014
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East Asian
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Other
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allele frequency: 0.0e0
allele num: 601
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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
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
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QD
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DP
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Other
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South Asian
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Latino
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African
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.185935689772007e-5
allele num: 45747
num of homozygotes: 0

VQSLOD
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
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DP
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 2.189333566862247e-5
allele num: 45676
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Other
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allele num: 603
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Latino
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allele count: 0
allele frequency: 0.0e0
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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: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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QD
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DP
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SIO_000300: 1.818295e6

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

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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allele frequency: 0.0e0
allele num: 4146
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Other
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South Asian
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Latino
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African
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allele frequency: 9.796718099436689e-4
allele num: 8166
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FS
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VQSLOD
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MQ
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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QD
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DP
type: SiteQuality
SIO_000300: 1.769921e6

GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 6.593986284508528e-5
allele num: 45496
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Other
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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: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 4146
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South Asian
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FS
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MQRankSum
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MQ
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QD
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BaseQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 2

Latino
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East Asian
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African
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allele frequency: 2.452783909737552e-4
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Other
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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: 45376
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South Asian
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InbreedingCoeff
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ClippingRankSum
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DP
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ReadPosRankSum
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MQ
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VQSLOD
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BaseQRankSum
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FS
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MQRankSum
type: SiteQuality
SIO_000300: -5.01e-1

QD
type: SiteQuality
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GenotypeQuality
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East Asian
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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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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 4.422039444591846e-5
allele num: 45228
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Latino
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BaseQRankSum
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QD
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.895e1

DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
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South Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.213956783563585e-5
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Other
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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QD
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 9197
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 4.238635159478648e-5
allele num: 47185
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East Asian
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South Asian
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African
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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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Other
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MQRankSum
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InbreedingCoeff
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FS
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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VQSLOD
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

African
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Latino
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European (Non-Finnish)
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allele num: 47183
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Other
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allele num: 618
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South Asian
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allele frequency: 1.009896990506968e-4
allele num: 9902
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European (Finnish)
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East Asian
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
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DP
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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South Asian
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allele num: 9883
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East Asian
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Other
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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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European (Non-Finnish)
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European (Finnish)
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allele frequency: 0.0e0
allele num: 4404
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Latino
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allele frequency: 1.087547580206634e-4
allele num: 9195
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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FS
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

Latino
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num of homozygotes: 0

South Asian
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European (Non-Finnish)
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European (Finnish)
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East Asian
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African
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allele frequency: 1.187648456057007e-4
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Other
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MQRankSum
type: SiteQuality
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MQ
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FS
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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QD
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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DP
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GenotypeQuality
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variant carriers: 0

East Asian
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African
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South Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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Other
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ClippingRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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QD
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DP
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MQ
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GenotypeQuality
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African
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South Asian
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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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Other
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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QD
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FS
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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DP
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ClippingRankSum
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MQ
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GenotypeQuality
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Latino
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Other
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East Asian
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South Asian
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African
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European (Finnish)
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European (Non-Finnish)
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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QD
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FS
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DP
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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European (Finnish)
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African
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Latino
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East Asian
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Other
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VQSLOD
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MQRankSum
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DP
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InbreedingCoeff
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MQ
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QD
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FS
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: 3.27e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

South Asian
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allele frequency: 0.0e0
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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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European (Non-Finnish)
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allele frequency: 2.103447550535327e-5
allele num: 47541
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 622
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VQSLOD
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MQ
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InbreedingCoeff
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DP
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QD
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FS
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 9260
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
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South Asian
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allele num: 9982
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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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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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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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South Asian
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Other
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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
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VQSLOD
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MQ
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MQRankSum
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QD
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DP
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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GenotypeQuality
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variant carriers: 6

South Asian
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 8.616975441619991e-4
allele num: 9284
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 47832
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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FS
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DP
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SIO_000300: 1.591221e6

QD
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 626
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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MQ
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FS
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QD
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VQSLOD
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DP
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InbreedingCoeff
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GenotypeQuality
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variant carriers: 0

South 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
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Latino
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Other
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African
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allele num: 8485
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East Asian
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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MQ
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ReadPosRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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variant carriers: 2

South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 2.094416286181041e-5
allele num: 47746
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East Asian
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Other
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allele frequency: 0.0e0
allele num: 620
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African
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ReadPosRankSum
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FS
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.5e-3

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
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VQSLOD
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 9291
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 47879
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Other
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African
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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DP
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QD
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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FS
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ClippingRankSum
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MQ
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ReadPosRankSum
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
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allele num: 10076
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African
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allele frequency: 1.178550383028874e-4
allele num: 8485
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Latino
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
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European (Non-Finnish)
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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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DP
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QD
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GenotypeQuality
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variant carriers: 0

East Asian
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European (Non-Finnish)
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African
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South Asian
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Latino
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Other
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European (Finnish)
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allele num: 4483
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FS
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DP
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InbreedingCoeff
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VQSLOD
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QD
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MQ
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Finnish)
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African
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South Asian
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Latino
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European (Non-Finnish)
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East Asian
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Other
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InbreedingCoeff
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ReadPosRankSum
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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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DP
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
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num of homozygotes: 0

South Asian
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Latino
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European (Finnish)
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East Asian
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African
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Other
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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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DP
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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African
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num of homozygotes: 0

European (Finnish)
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South Asian
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European (Non-Finnish)
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East Asian
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Other
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Latino
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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DP
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ReadPosRankSum
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FS
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BaseQRankSum
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QD
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MQ
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MQRankSum
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GenotypeQuality
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Other
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African
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European (Finnish)
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Latino
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East Asian
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South Asian
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European (Non-Finnish)
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FS
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BaseQRankSum
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MQRankSum
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DP
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MQ
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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QD
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ReadPosRankSum
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.095689167382694e-5
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Latino
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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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East Asian
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allele frequency: 0.0e0
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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MQRankSum
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InbreedingCoeff
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FS
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QD
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VQSLOD
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DP
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ReadPosRankSum
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MQ
type: SiteQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
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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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South Asian
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European (Non-Finnish)
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allele frequency: 4.191202665604895e-5
allele num: 47719
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European (Finnish)
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allele frequency: 0.0e0
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Other
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East Asian
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MQ
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DP
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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QD
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VQSLOD
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MQRankSum
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BaseQRankSum
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FS
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Latino
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 6612
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European (Non-Finnish)
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allele frequency: 2.103668798384382e-5
allele num: 47536
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QD
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InbreedingCoeff
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MQ
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VQSLOD
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FS
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SIO_000300: 0.0e0

DP
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GenotypeQuality
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variant carriers: 0

African
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South Asian
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East Asian
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Other
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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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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.11135274370289e-5
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num of homozygotes: 0

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

FS
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ClippingRankSum
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QD
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VQSLOD
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e-1

DP
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SIO_000300: 1.560433e6

GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 1.086602194936434e-4
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African
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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Other
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VQSLOD
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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FS
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InbreedingCoeff
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QD
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ClippingRankSum
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BaseQRankSum
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MQ
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 1.832340815391663e-3
allele num: 4366
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East Asian
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European (Non-Finnish)
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allele frequency: 1.902547299439806e-4
allele num: 47305
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African
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allele frequency: 0.0e0
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South Asian
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Other
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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FS
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MQ
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
type: SiteQuality
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DP
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QD
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
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African
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East Asian
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South 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: 4.283939510774108e-5
allele num: 46686
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Other
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
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QD
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ReadPosRankSum
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BaseQRankSum
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DP
type: SiteQuality
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 8980
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4105
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 577
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African
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allele frequency: 1.221299462628236e-4
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South Asian
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ReadPosRankSum
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FS
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ClippingRankSum
type: SiteQuality
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MQ
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MQRankSum
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VQSLOD
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InbreedingCoeff
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DP
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BaseQRankSum
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QD
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
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allele frequency: 0.0e0
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East Asian
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Other
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European (Non-Finnish)
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allele frequency: 4.441384823788057e-5
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African
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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MQ
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DP
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QD
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ReadPosRankSum
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GenotypeQuality
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European (Finnish)
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African
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East Asian
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South Asian
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European (Non-Finnish)
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Other
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Latino
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FS
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MQ
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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QD
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GenotypeQuality
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African
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Other
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East Asian
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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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FS
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VQSLOD
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QD
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DP
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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MQ
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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Latino
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South Asian
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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Other
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DP
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FS
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QD
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BaseQRankSum
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VQSLOD
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MQRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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South Asian
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African
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European (Finnish)
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European (Non-Finnish)
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East Asian
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Latino
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Other
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MQ
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DP
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QD
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FS
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InbreedingCoeff
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VQSLOD
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