X-77218192-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077218192
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077218192
    reference: chr 0
allele count: 1
allele frequency: 1.257339720619114e-5
allele num: 79533
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-8926G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248503
  ensembl transcript: ENST00000506043
  gene symbol: RP5-1000K24.2
  hgvsc: ENST00000506043.1:n.143G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-8926G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248503
  ensembl transcript: ENST00000602791
  gene symbol: RP5-1000K24.2
  hgvsc: ENST00000602791.1:n.168G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-8926G>A
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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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: 10
  bin: 8.25e1
  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 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: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6807
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
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genotype quality: GenotypeQuality
  all individuals: 4313
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD

X-77218237-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077218237
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077218237
    reference: chr 0
allele count: 1
allele frequency: 1.29543746923336e-5
allele num: 77194
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248503
  ensembl transcript: ENST00000602791
  gene symbol: RP5-1000K24.2
  hgvsc: ENST00000602791.1:n.213C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248503
  ensembl transcript: ENST00000506043
  gene symbol: RP5-1000K24.2
  hgvsc: ENST00000506043.1:n.188C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-8881C>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-8881C>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-8881C>T
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 1
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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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 790
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

X-77218254-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077218254
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077218254
    reference: chr 0
allele count: 1
allele frequency: 1.310530109429264e-5
allele num: 76305
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-8864A>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248503
  ensembl transcript: ENST00000602791
  gene symbol: RP5-1000K24.2
  hgvsc: ENST00000602791.1:n.230A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248503
  ensembl transcript: ENST00000506043
  gene symbol: RP5-1000K24.2
  hgvsc: ENST00000506043.1:n.205A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-8864A>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-8864A>G
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  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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  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 depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

X-77218260-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077218260
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077218260
    reference: chr 0
allele count: 1
allele frequency: 1.316309069369488e-5
allele num: 75970
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-8858C>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248503
  ensembl transcript: ENST00000602791
  gene symbol: RP5-1000K24.2
  hgvsc: ENST00000602791.1:n.236C>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-8858C>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-8858C>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248503
  ensembl transcript: ENST00000506043
  gene symbol: RP5-1000K24.2
  hgvsc: ENST00000506043.1:n.211C>A
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

X-77218263-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077218263
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077218263
    reference: chr 0
allele count: 57
allele frequency: 7.670156363538498e-4
allele num: 74314
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-8855G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-8855G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-8855G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248503
  ensembl transcript: ENST00000602791
  gene symbol: RP5-1000K24.2
  hgvsc: ENST00000602791.1:n.239G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248503
  ensembl transcript: ENST00000506043
  gene symbol: RP5-1000K24.2
  hgvsc: ENST00000506043.1:n.214G>A
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9702
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20452
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8631
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13066
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3544
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14237
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 27643
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 5.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1405
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2121
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 7.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

X-77218266-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077218266
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077218266
    reference: chr 0
allele count: 1
allele frequency: 1.315997262725693e-5
allele num: 75988
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248503
  ensembl transcript: ENST00000602791
  gene symbol: RP5-1000K24.2
  hgvsc: ENST00000602791.1:n.242G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-8852G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-8852G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-8852G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248503
  ensembl transcript: ENST00000506043
  gene symbol: RP5-1000K24.2
  hgvsc: ENST00000506043.1:n.217G>A
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13832
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9802
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1808
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3520
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14591
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ

X-77218269-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077218269
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077218269
    reference: chr 0
allele count: 4
allele frequency: 5.269536807714602e-5
allele num: 75908
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-8849A>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-8849A>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248503
  ensembl transcript: ENST00000602791
  gene symbol: RP5-1000K24.2
  hgvsc: ENST00000602791.1:n.245A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248503
  ensembl transcript: ENST00000506043
  gene symbol: RP5-1000K24.2
  hgvsc: ENST00000506043.1:n.220A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-8849A>G
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13793
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10031
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8529
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 30312
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3519
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

X-77218271-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077218271
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077218271
    reference: chr 0
allele count: 1
allele frequency: 1.323013825494476e-5
allele num: 75585
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-8847A>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248503
  ensembl transcript: ENST00000602791
  gene symbol: RP5-1000K24.2
  hgvsc: ENST00000602791.1:n.247A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-8847A>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248503
  ensembl transcript: ENST00000506043
  gene symbol: RP5-1000K24.2
  hgvsc: ENST00000506043.1:n.222A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-8847A>G
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2749
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10298
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28994
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15321
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2012
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3448
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

X-77218283-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077218283
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077218283
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 74625
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-8835A>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248503
  ensembl transcript: ENST00000506043
  gene symbol: RP5-1000K24.2
  hgvsc: ENST00000506043.1:n.234A>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248503
  ensembl transcript: ENST00000602791
  gene symbol: RP5-1000K24.2
  hgvsc: ENST00000602791.1:n.259A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-8835A>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-8835A>G
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9727
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3326
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28294
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16874
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 953
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

X-77218285-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077218285
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077218285
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 74348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-8833C>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248503
  ensembl transcript: ENST00000602791
  gene symbol: RP5-1000K24.2
  hgvsc: ENST00000602791.1:n.261C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248503
  ensembl transcript: ENST00000506043
  gene symbol: RP5-1000K24.2
  hgvsc: ENST00000506043.1:n.236C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-8833C>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-8833C>G
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
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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: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18999
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
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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 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: 447
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1876
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27929
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: FS

X-77218287-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077218287
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077218287
    reference: chr 0
allele count: 30
allele frequency: 4.047818225976199e-4
allele num: 74114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248503
  ensembl transcript: ENST00000506043
  gene symbol: RP5-1000K24.2
  hgvsc: ENST00000506043.1:n.238C>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-8831C>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-8831C>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248503
  ensembl transcript: ENST00000602791
  gene symbol: RP5-1000K24.2
  hgvsc: ENST00000602791.1:n.263C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-8831C>A
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13080
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
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  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 18629
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  variant carriers: 3
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
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
genotype quality: GenotypeQuality
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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: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 381
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  variant carriers: 2
genotype quality: GenotypeQuality
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

X-77218304-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077218304
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077218304
    reference: chr 0
allele count: 2
allele frequency: 2.810251798561151e-5
allele num: 71168
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248503
  ensembl transcript: ENST00000506043
  gene symbol: RP5-1000K24.2
  hgvsc: ENST00000506043.1:n.255C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-8814C>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248503
  ensembl transcript: ENST00000602791
  gene symbol: RP5-1000K24.2
  hgvsc: ENST00000602791.1:n.280C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-8814C>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-8814C>T
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11597
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
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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: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  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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  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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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 438
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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: 524
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1117
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2847
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

X-77218305-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077218305
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077218305
    reference: chr 0
allele count: 10
allele frequency: 1.411452525794295e-4
allele num: 70849
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-8813G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248503
  ensembl transcript: ENST00000602791
  gene symbol: RP5-1000K24.2
  hgvsc: ENST00000602791.1:n.281G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-8813G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248503
  ensembl transcript: ENST00000506043
  gene symbol: RP5-1000K24.2
  hgvsc: ENST00000506043.1:n.256G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-8813G>A
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13912
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14007
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11447
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21953
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21203
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

X-77218319-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077218319
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077218319
    reference: chr 0
allele count: 1
allele frequency: 1.463635964462919e-5
allele num: 68323
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-8799A>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-8799A>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248503
  ensembl transcript: ENST00000602791
  gene symbol: RP5-1000K24.2
  hgvsc: ENST00000602791.1:n.295A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248503
  ensembl transcript: ENST00000506043
  gene symbol: RP5-1000K24.2
  hgvsc: ENST00000506043.1:n.270A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-8799A>G
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8828
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  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
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
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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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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: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 254
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2085
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genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2763
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3915
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genotype quality: GenotypeQuality
  all individuals: 16599
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD

X-77218327-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077218327
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077218327
    reference: chr 0
allele count: 1
allele frequency: 1.504664459825459e-5
allele num: 66460
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248503
  ensembl transcript: ENST00000506043
  gene symbol: RP5-1000K24.2
  hgvsc: ENST00000506043.1:n.278G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248503
  ensembl transcript: ENST00000602791
  gene symbol: RP5-1000K24.2
  hgvsc: ENST00000602791.1:n.303G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-8791G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-8791G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-8791G>A
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7015
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4914
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8717
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3555
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3911
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

X-77218344-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077218344
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077218344
    reference: chr 0
allele count: 1
allele frequency: 1.620141600375873e-5
allele num: 61723
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-8774C>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248503
  ensembl transcript: ENST00000506043
  gene symbol: RP5-1000K24.2
  hgvsc: ENST00000506043.1:n.295C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-8774C>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248503
  ensembl transcript: ENST00000602791
  gene symbol: RP5-1000K24.2
  hgvsc: ENST00000602791.1:n.320C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-8774C>T
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17333
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16048
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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: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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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 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: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5957
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

X-77218345-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077218345
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077218345
    reference: chr 0
allele count: 1
allele frequency: 1.637813846078255e-5
allele num: 61057
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248503
  ensembl transcript: ENST00000506043
  gene symbol: RP5-1000K24.2
  hgvsc: ENST00000506043.1:n.296G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-8773G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248503
  ensembl transcript: ENST00000602791
  gene symbol: RP5-1000K24.2
  hgvsc: ENST00000602791.1:n.321G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-8773G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-8773G>A
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9408
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15657
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5568
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4503
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3505
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5559
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5977
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4528
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

X-77220936-AGAAATGT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077220936
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077220929
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 5332
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2192
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: AGAAATGT
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

X-77220977-CTGCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077220977
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077220973
    reference: chr 0
allele count: 1
allele frequency: 2.251745102454402e-4
allele num: 4441
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-6140_-21-6137delTGCT
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-6140_-21-6137delTGCT
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-6140_-21-6137delTGCT
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1949
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: CTGCT
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

X-77220982-AGGATGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077220982
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077220976
    reference: chr 0
allele count: 1
allele frequency: 2.464875523786049e-4
allele num: 4057
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1754
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
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: AGGATGG
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

X-77220990-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077220990
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077220991
    reference: chr 0
allele count: 1
allele frequency: 2.75709953129308e-4
allele num: 3627
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-6128_-21-6127insC
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-6128_-21-6127insC
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-6128_-21-6127insC
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

X-77222333-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077222333
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077222333
    reference: chr 0
allele count: 1
allele frequency: 1.331735251032095e-4
allele num: 7509
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-4785C>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-4785C>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-4785C>T
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP

X-77222334-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077222334
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077222334
    reference: chr 0
allele count: 4
allele frequency: 5.355469272995046e-4
allele num: 7469
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-4784G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-4784G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-4784G>A
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
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site quality: ClippingRankSum

X-77222340-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077222340
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077222340
    reference: chr 0
allele count: 4
allele frequency: 5.372733378106112e-4
allele num: 7445
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-4778A>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-4778A>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-4778A>G
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
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site quality: FS
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site quality: MQ
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site quality: DP

X-77224325-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224325
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224325
    reference: chr 0
allele count: 1
allele frequency: 1.274388612063363e-5
allele num: 78469
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2793C>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2793C>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2793C>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
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  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.*46G>A
  variant of: http://identifiers.org/hgnc/21731
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
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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: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 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: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4174
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

X-77224326-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224326
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224326
    reference: chr 0
allele count: 1
allele frequency: 1.27562409909048e-5
allele num: 78393
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2792C>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2792C>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.*45G>T
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2792C>A
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13521
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype 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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  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

X-77224330-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224330
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224330
    reference: chr 0
allele count: 27
allele frequency: 3.424310064935065e-4
allele num: 78848
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.*41T>G
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2788A>C
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2788A>C
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2788A>C
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
  all individuals: 1834
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  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

X-77224339-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224339
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224339
    reference: chr 0
allele count: 2
allele frequency: 2.506297071391872e-5
allele num: 79799
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2779G>C
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2779G>C
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.*32C>G
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2779G>C
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 19917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype 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: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

X-77224356-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224356
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224356
    reference: chr 0
allele count: 1
allele frequency: 1.20564725172709e-5
allele num: 82943
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2762C>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2762C>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.*15G>T
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2762C>A
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4213
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3625
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD

X-77224362-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224362
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224362
    reference: chr 0
allele count: 9
allele frequency: 1.071352046282408e-4
allele num: 84006
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2756C>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.*9G>A
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2756C>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2756C>T
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1296
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 1.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 6106
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genotype depth: GenotypeDepth
  all individuals: 44
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
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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
  all individuals: 1214
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 3635
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 276
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6148
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2062
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

X-77224363-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224363
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224363
    reference: chr 0
allele count: 7
allele frequency: 8.300920216298263e-5
allele num: 84328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2755G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.*8C>T
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2755G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2755G>A
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1297
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 446
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
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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: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  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
  all individuals: 2062
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2259
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 3634
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 2810
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 276
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 35842
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6224
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

X-77224365-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224365
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224365
    reference: chr 0
allele count: 3
allele frequency: 3.554291807357384e-5
allele num: 84405
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2753T>C
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.*6A>G
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2753T>C
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2753T>C
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 31148
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 76
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 3.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 286
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  variant carriers: 12
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2680
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  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 171
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  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 228
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
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  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 13350
  bin: 2.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 288
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  variant carriers: 12
genotype quality: GenotypeQuality
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  variant carriers: 10
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 9
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.75e1
  variant carriers: 7
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD

X-77224372-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224372
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224372
    reference: chr 0
allele count: 1
allele frequency: 1.169112059390893e-5
allele num: 85535
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2746C>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: stop_lost
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.764G>T
  hgvsp: ENSP00000412189.1:p.Ter255LeuextTer29
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2746C>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2746C>A
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
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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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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1302
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31939
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1218
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ter255LeuextTer29
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD

X-77224381-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224381
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224381
    reference: chr 0
allele count: 1
allele frequency: 1.164334117318306e-5
allele num: 85886
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2737G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2737G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.755C>T
  hgvsp: ENSP00000412189.1:p.Ala252Val
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2737G>A
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6563
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2819
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38772
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala252Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

X-77224385-TGCCCTGGGCAGCCACA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224385
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224369
    reference: chr 0
allele count: 3
allele frequency: 3.487317787645595e-5
allele num: 86026
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsp: ENSP00000412189.1:p.Val246ArgfsTer43
  variant of: http://identifiers.org/hgnc/21731
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 6430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14429
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1301
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39006
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2818
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3679
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2324
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val246ArgfsTer43
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: TGCCCTGGGCAGCCACA
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

X-77224386-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224386
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224386
    reference: chr 0
allele count: 2
allele frequency: 2.325689566956603e-5
allele num: 85996
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2732G>C
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2732G>C
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.750C>G
  hgvsp: ENST00000458128.1:c.750C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2732G>C
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14457
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
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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
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2321
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3677
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly250Gly
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

X-77224407-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224407
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224407
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 86657
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.729A>G
  hgvsp: ENSP00000412189.1:p.Ile243Met
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2711T>C
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2711T>C
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2711T>C
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 14861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2651
  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: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3571
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2801
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 46
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6676
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 7.25e1
  variant carriers: 1
hgvs: p.Ile243Met
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

X-77224418-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224418
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224418
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 86851
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2700A>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2700A>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2700A>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.718T>C
  hgvsp: ENSP00000412189.1:p.Cys240Arg
  variant of: http://identifiers.org/hgnc/21731
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 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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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 717
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3572
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Cys240Arg
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD

X-77224422-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224422
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224422
    reference: chr 0
allele count: 2
allele frequency: 2.300093153772728e-5
allele num: 86953
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2696C>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2696C>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2696C>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.714G>A
  hgvsp: ENST00000458128.1:c.714G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21731
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2324
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  variant carriers: 0
hgvs: p.Thr238Thr
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

X-77224425-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224425
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224425
    reference: chr 0
allele count: 2
allele frequency: 2.299352732205884e-5
allele num: 86981
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2693C>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2693C>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2693C>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.711G>C
  hgvsp: ENSP00000412189.1:p.Glu237Asp
  variant of: http://identifiers.org/hgnc/21731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
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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 quality: GenotypeQuality
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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.Glu237Asp
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

X-77224433-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224433
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224433
    reference: chr 0
allele count: 1
allele frequency: 1.149346022113417e-5
allele num: 87006
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.703G>A
  hgvsp: ENSP00000412189.1:p.Asp235Asn
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2685C>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2685C>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2685C>T
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
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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: 6718
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  variant carriers: 0
hgvs: p.Asp235Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS

X-77224436-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224436
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224436
    reference: chr 0
allele count: 1
allele frequency: 1.149266767802142e-5
allele num: 87012
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2682C>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2682C>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2682C>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.700G>C
  hgvsp: ENSP00000412189.1:p.Gly234Arg
  variant of: http://identifiers.org/hgnc/21731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 39992
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly234Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

X-77224436-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224436
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224436
    reference: chr 0
allele count: 1
allele frequency: 1.149266767802142e-5
allele num: 87012
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2682C>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2682C>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.700G>A
  hgvsp: ENSP00000412189.1:p.Gly234Arg
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2682C>T
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2035
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  variant carriers: 0
hgvs: p.Gly234Arg
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

X-77224439-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224439
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224439
    reference: chr 0
allele count: 3
allele frequency: 3.447721056381731e-5
allele num: 87014
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2679G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.697C>T
  hgvsp: ENST00000458128.1:c.697C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2679G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2679G>A
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
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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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hgvs: p.Leu233Leu
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

X-77224447-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224447
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224447
    reference: chr 0
allele count: 2
allele frequency: 2.298190175237001e-5
allele num: 87025
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.689T>C
  hgvsp: ENSP00000412189.1:p.Met230Thr
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2671A>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2671A>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2671A>G
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 67
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  variant carriers: 0
hgvs: p.Met230Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP

X-77224452-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224452
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224452
    reference: chr 0
allele count: 4
allele frequency: 4.59447973260128e-5
allele num: 87061
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2666C>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2666C>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.684G>A
  hgvsp: ENST00000458128.1:c.684G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2666C>T
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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
genotype quality: GenotypeQuality
  all individuals: 39995
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys228Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

X-77224478-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224478
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224478
    reference: chr 0
allele count: 1
allele frequency: 1.147236307734667e-5
allele num: 87166
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2640A>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.658T>C
  hgvsp: ENST00000458128.1:c.658T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2640A>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2640A>G
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32396
  bin: 2.25e1
  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 quality: GenotypeQuality
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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: 3587
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  variant carriers: 1
hgvs: p.Leu220Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

X-77224478-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224478
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224478
    reference: chr 0
allele count: 1
allele frequency: 1.147236307734667e-5
allele num: 87166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2640A>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2640A>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.658T>A
  hgvsp: ENSP00000412189.1:p.Leu220Met
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2640A>T
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Leu220Met
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

X-77224487-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224487
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224487
    reference: chr 0
allele count: 2
allele frequency: 2.293735807509691e-5
allele num: 87194
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.649G>T
  hgvsp: ENSP00000412189.1:p.Val217Phe
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2631C>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2631C>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2631C>A
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 40102
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  variant carriers: 0
hgvs: p.Val217Phe
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS

X-77224487-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224487
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224487
    reference: chr 0
allele count: 6
allele frequency: 6.881207422529073e-5
allele num: 87194
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2631C>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2631C>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2631C>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.649G>A
  hgvsp: ENSP00000412189.1:p.Val217Ile
  variant of: http://identifiers.org/hgnc/21731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 70
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 32
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val217Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff

X-77224493-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224493
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224493
    reference: chr 0
allele count: 2
allele frequency: 2.293262395083245e-5
allele num: 87212
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.643C>T
  hgvsp: ENSP00000412189.1:p.Pro215Ser
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2625G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2625G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2625G>A
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 30
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  variant carriers: 0
hgvs: p.Pro215Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

X-77224505-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224505
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224505
    reference: chr 0
allele count: 20
allele frequency: 2.292105986980838e-4
allele num: 87256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2613G>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2613G>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2613G>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.631C>A
  hgvsp: ENSP00000412189.1:p.Pro211Thr
  variant of: http://identifiers.org/hgnc/21731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
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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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 911
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  variant carriers: 0
hgvs: p.Pro211Thr
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD

X-77224525-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224525
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224525
    reference: chr 0
allele count: 3
allele frequency: 3.430727886099834e-5
allele num: 87445
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2593G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.611C>T
  hgvsp: ENSP00000412189.1:p.Ala204Val
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2593G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2593G>A
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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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: 2029
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  variant carriers: 0
hgvs: p.Ala204Val
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

X-77224526-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224526
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224526
    reference: chr 0
allele count: 4
allele frequency: 4.573885401301271e-5
allele num: 87453
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2592C>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.610G>T
  hgvsp: ENSP00000412189.1:p.Ala204Ser
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2592C>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2592C>A
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 3572
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 40662
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala204Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

X-77224546-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224546
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224546
    reference: chr 0
allele count: 1
allele frequency: 1.141995751775803e-5
allele num: 87566
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2572A>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2572A>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2572A>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.590T>C
  hgvsp: ENSP00000412189.1:p.Val197Ala
  variant of: http://identifiers.org/hgnc/21731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
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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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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: 3569
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3
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  variant carriers: 0
hgvs: p.Val197Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

X-77224547-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224547
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224547
    reference: chr 0
allele count: 1
allele frequency: 1.141995751775803e-5
allele num: 87566
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2571C>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2571C>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2571C>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.589G>A
  hgvsp: ENSP00000412189.1:p.Val197Met
  variant of: http://identifiers.org/hgnc/21731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
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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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6747
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hgvs: p.Val197Met
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

X-77224554-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224554
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224554
    reference: chr 0
allele count: 1
allele frequency: 1.14195662848725e-5
allele num: 87569
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2564G>C
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.582C>G
  hgvsp: ENST00000458128.1:c.582C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2564G>C
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2564G>C
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2661
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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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  variant carriers: 0
hgvs: p.Ala194Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP

X-77224566-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224566
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224566
    reference: chr 0
allele count: 1
allele frequency: 1.142152271740869e-5
allele num: 87554
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.570C>A
  hgvsp: ENST00000458128.1:c.570C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2552G>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2552G>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2552G>T
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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.Leu190Leu
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

X-77224578-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224578
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224578
    reference: chr 0
allele count: 1
allele frequency: 1.143013899049012e-5
allele num: 87488
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2540A>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2540A>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2540A>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.558T>C
  hgvsp: ENST00000458128.1:c.558T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21731
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.His186His
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

X-77224579-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224579
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224579
    reference: chr 0
allele count: 1
allele frequency: 1.142987770030861e-5
allele num: 87490
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2539T>C
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2539T>C
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.557A>G
  hgvsp: ENSP00000412189.1:p.His186Arg
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2539T>C
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.His186Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum

X-77224597-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224597
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224597
    reference: chr 0
allele count: 1
allele frequency: 1.148435256962389e-5
allele num: 87075
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2521C>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2521C>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2521C>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.539G>A
  hgvsp: ENSP00000412189.1:p.Arg180His
  variant of: http://identifiers.org/hgnc/21731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 354
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Arg180His
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

X-77224614-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224614
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224614
    reference: chr 0
allele count: 13
allele frequency: 1.497626837472928e-4
allele num: 86804
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.522G>C
  hgvsp: ENSP00000412189.1:p.Gln174His
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2504C>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2504C>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2504C>G
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 512
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 68
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln174His
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

X-77224617-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224617
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224617
    reference: chr 0
allele count: 3
allele frequency: 3.456420300708566e-5
allele num: 86795
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.519C>T
  hgvsp: ENST00000458128.1:c.519C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2501G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2501G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2501G>A
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 132
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  variant carriers: 0
hgvs: p.Pro173Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
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X-77224619-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224619
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224619
    reference: chr 0
allele count: 1
allele frequency: 1.152073732718894e-5
allele num: 86800
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2499G>C
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2499G>C
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.517C>G
  hgvsp: ENSP00000412189.1:p.Pro173Ala
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2499G>C
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype 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.Pro173Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

X-77224625-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224625
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224625
    reference: chr 0
allele count: 1
allele frequency: 1.152206475400392e-5
allele num: 86790
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2493T>C
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2493T>C
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.511A>G
  hgvsp: ENSP00000412189.1:p.Ile171Val
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2493T>C
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 521
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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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  variant carriers: 0
hgvs: p.Ile171Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

X-77224668-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224668
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224668
    reference: chr 0
allele count: 7
allele frequency: 8.02899614608185e-5
allele num: 87184
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.468G>A
  hgvsp: ENST00000458128.1:c.468G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2450C>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2450C>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2450C>T
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro156Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

X-77224669-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224669
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224669
    reference: chr 0
allele count: 2
allele frequency: 2.293472776478143e-5
allele num: 87204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2449G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2449G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.467C>T
  hgvsp: ENSP00000412189.1:p.Pro156Leu
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2449G>A
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
hgvs: p.Pro156Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
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site quality: MQ

X-77224686-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224686
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224686
    reference: chr 0
allele count: 9
allele frequency: 1.032417922775139e-4
allele num: 87174
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.450A>G
  hgvsp: ENST00000458128.1:c.450A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2432T>C
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2432T>C
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2432T>C
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32372
  bin: 2.25e1
  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Leu150Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

X-77224688-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224688
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224688
    reference: chr 0
allele count: 3
allele frequency: 3.441866868589523e-5
allele num: 87162
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2430G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2430G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2430G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.448C>T
  hgvsp: ENST00000458128.1:c.448C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21731
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  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 quality: GenotypeQuality
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hgvs: p.Leu150Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

X-77224689-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224689
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224689
    reference: chr 0
allele count: 1
allele frequency: 1.147578609134726e-5
allele num: 87140
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.447G>C
  hgvsp: ENSP00000412189.1:p.Gln149His
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2429C>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2429C>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2429C>G
  variant of: http://identifiers.org/hgnc/869
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1200
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hgvs: p.Gln149His
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
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site quality: DP

X-77224701-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224701
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224701
    reference: chr 0
allele count: 1
allele frequency: 1.149200730891665e-5
allele num: 87017
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2417G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.435C>T
  hgvsp: ENST00000458128.1:c.435C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2417G>A
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2417G>A
  variant of: http://identifiers.org/hgnc/869
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 quality: GenotypeQuality
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hgvs: p.Leu145Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
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X-77224702-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224702
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224702
    reference: chr 0
allele count: 1
allele frequency: 1.149530991355527e-5
allele num: 86992
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2416A>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2416A>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2416A>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.434T>C
  hgvsp: ENSP00000412189.1:p.Leu145Pro
  variant of: http://identifiers.org/hgnc/21731
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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hgvs: p.Leu145Pro
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
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X-77224710-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224710
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224710
    reference: chr 0
allele count: 12
allele frequency: 1.386577925679423e-4
allele num: 86544
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2408A>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.426T>C
  hgvsp: ENST00000458128.1:c.426T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2408A>G
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2408A>G
  variant of: http://identifiers.org/hgnc/869
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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hgvs: p.Tyr142Tyr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
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site quality: ClippingRankSum
site quality: DP
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X-77224716-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224716
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224716
    reference: chr 0
allele count: 2
allele frequency: 2.317309140625905e-5
allele num: 86307
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.420C>A
  hgvsp: ENST00000458128.1:c.420C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21731
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2402G>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2402G>T
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2402G>T
  variant of: http://identifiers.org/hgnc/869
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
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39430
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6672
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2794
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3566
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 7.25e1
  variant carriers: 1
hgvs: p.Arg140Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: DP

X-77224724-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224724
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224724
    reference: chr 0
allele count: 2
allele frequency: 2.328749577914139e-5
allele num: 85883
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343678
  ensembl transcript: ENST00000350425
  gene symbol: ATP7A
  hgvsc: ENST00000350425.4:c.-21-2394T>C
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000343026
  ensembl transcript: ENST00000343533
  gene symbol: ATP7A
  hgvsc: ENST00000343533.5:c.-21-2394T>C
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000165240
  ensembl protein: ENSP00000345728
  ensembl transcript: ENST00000341514
  gene symbol: ATP7A
  hgvsc: ENST00000341514.6:c.-21-2394T>C
  variant of: http://identifiers.org/hgnc/869
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000226784
  ensembl protein: ENSP00000412189
  ensembl transcript: ENST00000458128
  gene symbol: PGAM4
  hgvsc: ENST00000458128.1:c.412A>G
  hgvsp: ENSP00000412189.1:p.Lys138Glu
  variant of: http://identifiers.org/hgnc/21731
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2291
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39042
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3567
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys138Glu
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

X-77224731-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24077224731
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24077224731
allele count: 2
allele frequency: 2.3338039838034e-5
allele num: 85697
alternate allele: A
canonical: true
consequence: synonymous
filter: PASS
hgvs: p.Asn135Asn
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 988
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37972
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1098
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 159
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6748
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.074922068150059e-4
allele num: 9303
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4352
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6327
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 569
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8872
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

VQSLOD
type: SiteQuality
SIO_000300: 2.8e-1

DP
type: SiteQuality
SIO_000300: 1.337605e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 2.581e1

GenotypeQuality
all individuals: 12478
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 602
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4121
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6156
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6995
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.129177958446251e-4
allele num: 8856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41956
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.98e-1

QD
type: SiteQuality
SIO_000300: 2.814e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
SIO_000300: 1.238147e6

GenotypeQuality
all individuals: 1113
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 985
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2257
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7032
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.412137877801095e-5
allele num: 41457
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4045
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6096
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8687
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.423e1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.21e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

DP
type: SiteQuality
SIO_000300: 1.213033e6

FS
type: SiteQuality
SIO_000300: 2.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.28e-1

GenotypeQuality
all individuals: 1188
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2216
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 973
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3346
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8399
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41263
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.159151501101194e-4
allele num: 8627
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4017
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7027
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6087
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.287e0

MQ
type: SiteQuality
SIO_000300: 5.799e1

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.559e0

DP
type: SiteQuality
SIO_000300: 1.21038e6

FS
type: SiteQuality
SIO_000300: 2.35e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.221e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e0

QD
type: SiteQuality
SIO_000300: 1.938e1

GenotypeQuality
all individuals: 1139
bin: 5.25e1
variant carriers: 4

GenotypeQuality
all individuals: 539
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 9.75e1
variant carriers: 37

GenotypeQuality
all individuals: 191
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3189
bin: 6.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6041
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 519
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.400096003840154e-4
allele num: 8333
num of homozygotes: 0

African
type: Population
allele count: 41
allele frequency: 5.963636363636364e-3
allele num: 6875
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.73516434485152e-4
allele num: 40342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.934770591487009e-3
allele num: 3618
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.854e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

FS
type: SiteQuality
SIO_000300: 4.3298e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

DP
type: SiteQuality
SIO_000300: 1.213805e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.9e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.964e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.03e-1

QD
type: SiteQuality
SIO_000300: 8.69e0

GenotypeQuality
all individuals: 453
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29781
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1122
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 287
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4016
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7117
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 551
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6073
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.169043722235212e-4
allele num: 8554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41301
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.219255e6

VQSLOD
type: SiteQuality
SIO_000300: -2.006e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.964e1

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeQuality
all individuals: 265
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1968
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14992
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4023
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 4.79443845139638e-4
allele num: 8343
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7133
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 547
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41271
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6061
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.19e-1

FS
type: SiteQuality
SIO_000300: 3.735e0

QD
type: SiteQuality
SIO_000300: 1.647e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

DP
type: SiteQuality
SIO_000300: 1.216345e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.207e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.351e0

VQSLOD
type: SiteQuality
SIO_000300: -1.799e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

GenotypeQuality
all individuals: 1120
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 266
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 952
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1025
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41092
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6036
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 545
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8315
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3995
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.404297149276787e-4
allele num: 7121
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8481
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.415e0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.957e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

QD
type: SiteQuality
SIO_000300: 1.692e1

DP
type: SiteQuality
SIO_000300: 1.207931e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

GenotypeQuality
all individuals: 263
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1871
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8174
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7137
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 541
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5933
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8342
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 6.532e0

VQSLOD
type: SiteQuality
SIO_000300: -1.541e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.17e-1

QD
type: SiteQuality
SIO_000300: 1.992e1

DP
type: SiteQuality
SIO_000300: 1.183223e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 208
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7114
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5915
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3942
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8151
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 1.177526e6

QD
type: SiteQuality
SIO_000300: 2.159e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 27653
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 2

GenotypeQuality
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bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 569
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 2
allele frequency: 3.738317757009346e-3
allele num: 535
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 3.479903556958564e-4
allele num: 40231
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3929
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.460629921259842e-4
allele num: 8128
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.688476150274377e-3
allele num: 7107
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5904
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.462e0

DP
type: SiteQuality
SIO_000300: 1.170968e6

VQSLOD
type: SiteQuality
SIO_000300: 2.68e0

FS
type: SiteQuality
SIO_000300: 5.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.27e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

QD
type: SiteQuality
SIO_000300: 1.574e1

GenotypeQuality
all individuals: 568
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2608
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variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 515
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6978
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.533890789306981e-4
allele num: 7893
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7786
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.082e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.846e-1

QD
type: SiteQuality
SIO_000300: 7.09e0

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

DP
type: SiteQuality
SIO_000300: 1.0865e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
all individuals: 2896
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
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variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 2.08566884792867e-4
allele num: 38357
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6959
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7748
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 515
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7833
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.531073446327684e-4
allele num: 5664
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3773
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.474e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.22e-1

FS
type: SiteQuality
SIO_000300: 5.600000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.928e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.17e-1

DP
type: SiteQuality
SIO_000300: 1.080625e6

GenotypeQuality
all individuals: 3746
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 608
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GenotypeQuality
all individuals: 459
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7429
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6867
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5453
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.711055685083771e-5
allele num: 36886
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.85471e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 7.59e-1

QD
type: SiteQuality
SIO_000300: 2.161e1

GenotypeQuality
all individuals: 252
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 699
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7278
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.793920429146178e-5
allele num: 35792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7260
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6754
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3578
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.8e-3

QD
type: SiteQuality
SIO_000300: 2.649e1

DP
type: SiteQuality
SIO_000300: 9.28727e5

GenotypeQuality
all individuals: 466
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6440
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3319
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6637
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 451
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6475
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.01331886940276e-5
allele num: 33186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4938
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6717
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.35359e5

FS
type: SiteQuality
SIO_000300: 4.482e0

MQRankSum
type: SiteQuality
SIO_000300: -1.231e0

QD
type: SiteQuality
SIO_000300: 1.447e1

VQSLOD
type: SiteQuality
SIO_000300: 1.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.17e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1313
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4480
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.505570611261668e-4
allele num: 6642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3303
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4861
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32803
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.26e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.401e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-1

DP
type: SiteQuality
SIO_000300: 8.29823e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

FS
type: SiteQuality
SIO_000300: 1.1573e1

QD
type: SiteQuality
SIO_000300: 1.365e1

VQSLOD
type: SiteQuality
SIO_000300: -1.268e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1688
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 119
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 93
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3326
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.404e0

QD
type: SiteQuality
SIO_000300: 1.097e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.79e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.17e-1

DP
type: SiteQuality
SIO_000300: 9.0e4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 3.813e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 3.765060240963856e-4
allele num: 2656
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1494
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 90
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QD
type: SiteQuality
SIO_000300: 5.64e0

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.727e0

MQRankSum
type: SiteQuality
SIO_000300: -1.621e0

VQSLOD
type: SiteQuality
SIO_000300: 4.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.37e0

MQ
type: SiteQuality
SIO_000300: 5.315e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.02e-1

DP
type: SiteQuality
SIO_000300: 6.6439e4

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 107
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 4.184100418410042e-4
allele num: 2390
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 37
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1385
num of homozygotes: 0

East Asian
type: Population
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allele frequency: 0.0e0
allele num: 91
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Other
type: Population
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allele frequency: 0.0e0
allele num: 47
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 4.971e1

VQSLOD
type: SiteQuality
SIO_000300: -1.689e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.207e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

DP
type: SiteQuality
SIO_000300: 6.1839e4

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.0e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1272
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43
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South Asian
type: Population
allele count: 1
allele frequency: 4.764173415912339e-4
allele num: 2099
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 84
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.324e0

DP
type: SiteQuality
SIO_000300: 5.9808e4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.236e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.85e0

QD
type: SiteQuality
SIO_000300: 9.140000000000001e0

MQ
type: SiteQuality
SIO_000300: 4.938e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

GenotypeQuality
all individuals: 142
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 435
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2603
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 149
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.431315341599805e-4
allele num: 4113
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 87
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-2

QD
type: SiteQuality
SIO_000300: 2.83e1

VQSLOD
type: SiteQuality
SIO_000300: -3.23e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.30968e5

GenotypeQuality
all individuals: 221
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 435
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 149
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 9.799118079372856e-4
allele num: 4082
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 87
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.29156e5

MQ
type: SiteQuality
SIO_000300: 5.932e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.69e-1

FS
type: SiteQuality
SIO_000300: 3.921e0

QD
type: SiteQuality
SIO_000300: 2.425e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.03e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.352e0

MQRankSum
type: SiteQuality
SIO_000300: 7.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 87
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 117
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 149
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2585
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 9.835259404966806e-4
allele num: 4067
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.44e-1

QD
type: SiteQuality
SIO_000300: 1.566e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.16e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.81e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.97e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.54e-1

DP
type: SiteQuality
SIO_000300: 1.26672e5

GenotypeQuality
all individuals: 11855
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2071
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3628
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7497
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4111
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.074113856068743e-4
allele num: 9310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6089
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.233098e6

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
SIO_000300: 2.004e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12546
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2373
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42251
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8581
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6076
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.33422281521014e-4
allele num: 7495
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.28e-1

DP
type: SiteQuality
SIO_000300: 1.238761e6

VQSLOD
type: SiteQuality
SIO_000300: 5.5e-2

QD
type: SiteQuality
SIO_000300: 2.916e1

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.8e-1

MQ
type: SiteQuality
SIO_000300: 5.441e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

GenotypeQuality
all individuals: 1155
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1871
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2428
bin: 7.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4141
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 6.350550381033022e-4
allele num: 42516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8615
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7534
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.26912e6

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.896e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.79e-1

MQ
type: SiteQuality
SIO_000300: 5.615e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.48e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.51e-1

GenotypeQuality
all individuals: 3616
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 935
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 986
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.114164904862579e-4
allele num: 9460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7633
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43028
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8737
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6175
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4178
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.016e0

MQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

QD
type: SiteQuality
SIO_000300: 2.503e1

DP
type: SiteQuality
SIO_000300: 1.339769e6

GenotypeQuality
all individuals: 2221
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5967
bin: 6.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7813
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9015
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9751
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4333
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.220988339811216e-5
allele num: 45025
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.470609e6

VQSLOD
type: SiteQuality
SIO_000300: -6.26e-2

MQ
type: SiteQuality
SIO_000300: 5.346e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.987e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
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allele count: 1
allele frequency: 1.545356204605162e-4
allele num: 6471
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 8.890017780035561e-4
allele num: 7874
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4403
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45663
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9122
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.014301653311695e-4
allele num: 9859
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.4e-2

MQ
type: SiteQuality
SIO_000300: 5.498e1

DP
type: SiteQuality
SIO_000300: 1.506358e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.09e-2

QD
type: SiteQuality
SIO_000300: 2.773e1

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

FS
type: SiteQuality
SIO_000300: 1.056e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.54e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.180264248026861e-5
allele num: 45866
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9888
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9141
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 7.595898214963919e-4
allele num: 7899
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.635e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.76e0

DP
type: SiteQuality
SIO_000300: 1.517871e6

FS
type: SiteQuality
SIO_000300: 2.898e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.17e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.81e-1

QD
type: SiteQuality
SIO_000300: 1.7e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 6

GenotypeQuality
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bin: 4.75e1
variant carriers: 8

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9189
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.532674259085861e-5
allele num: 45923
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 613
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7942
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4437
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6523
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.55e-1

MQ
type: SiteQuality
SIO_000300: 5.256e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

QD
type: SiteQuality
SIO_000300: 4.6e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.247e0

FS
type: SiteQuality
SIO_000300: 3.3145e1

DP
type: SiteQuality
SIO_000300: 1.539384e6

VQSLOD
type: SiteQuality
SIO_000300: -7.734e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2305
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 621
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.971083856815236e-5
allele num: 10029
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8015
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 46556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4488
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9250
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 6.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.069e0

MQ
type: SiteQuality
SIO_000300: 5.428e1

MQRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.005e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.304e0

DP
type: SiteQuality
SIO_000300: 1.551742e6

QD
type: SiteQuality
SIO_000300: 1.275e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2320
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46766
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9281
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.926543577526305e-5
allele num: 10074
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4505
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 625
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8029
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.4e1

FS
type: SiteQuality
SIO_000300: 2.4991e1

MQRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: -3.595e0

QD
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SIO_000300: 1.152e1

VQSLOD
type: SiteQuality
SIO_000300: -3.891e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-1

DP
type: SiteQuality
SIO_000300: 1.561202e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 10091
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9289
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8042
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 625
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.402595185248421e-5
allele num: 46856
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6609
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.273e0

MQ
type: SiteQuality
SIO_000300: 4.977e1

VQSLOD
type: SiteQuality
SIO_000300: 3.6e-2

FS
type: SiteQuality
SIO_000300: 2.423e0

DP
type: SiteQuality
SIO_000300: 1.564199e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

QD
type: SiteQuality
SIO_000300: 2.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.26e-1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9294
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 625
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10090
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 4.270857801789489e-5
allele num: 46829
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4515
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8034
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6609
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.51e-1

MQ
type: SiteQuality
SIO_000300: 5.604e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.252e0

FS
type: SiteQuality
SIO_000300: 4.417e0

DP
type: SiteQuality
SIO_000300: 1.564985e6

QD
type: SiteQuality
SIO_000300: 3.158e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.320000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.64e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47257
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8231
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10069
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e0

FS
type: SiteQuality
SIO_000300: 1.31999e2

QD
type: SiteQuality
SIO_000300: 2.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.106999999999999e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

DP
type: SiteQuality
SIO_000300: 1.583952e6

MQRankSum
type: SiteQuality
SIO_000300: -3.908e0

MQ
type: SiteQuality
SIO_000300: 5.362e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.26e-1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8282
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9321
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47373
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4528
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6630
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10087
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.008e0

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.12608e2

VQSLOD
type: SiteQuality
SIO_000300: -5.97e1

MQ
type: SiteQuality
SIO_000300: 5.331e1

QD
type: SiteQuality
SIO_000300: 1.8e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.20627261761158e-4
allele num: 8290
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 1.07284626113078e-4
allele num: 9321
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6631
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47427
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.26e-1

MQ
type: SiteQuality
SIO_000300: 5.399e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

VQSLOD
type: SiteQuality
SIO_000300: -1.243e0

FS
type: SiteQuality
SIO_000300: 1.761e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

DP
type: SiteQuality
SIO_000300: 1.579787e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8295
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47450
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.14569252226156e-4
allele num: 9321
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6631
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.579894e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e-1

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.106460514397658e-5
allele num: 47473
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8291
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.579919e6

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.543e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

African
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allele frequency: 0.0e0
allele num: 8292
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Other
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allele frequency: 0.0e0
allele num: 631
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.106283042315226e-5
allele num: 47477
num of homozygotes: 0

East Asian
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allele num: 6635
num of homozygotes: 0

South Asian
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Latino
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num of homozygotes: 0

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.02e-2

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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South Asian
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African
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allele frequency: 1.20598166907863e-4
allele num: 8292
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East Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 9322
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
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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MQ
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 2.145462347135808e-4
allele num: 9322
num of homozygotes: 0

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

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: 2.106416143573324e-5
allele num: 47474
num of homozygotes: 0

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

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

African
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Latino
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num of homozygotes: 0

East Asian
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allele frequency: 3.013863773357444e-4
allele num: 6636
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European (Finnish)
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South Asian
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Other
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ReadPosRankSum
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MQ
type: SiteQuality
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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FS
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QD
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BaseQRankSum
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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num of homozygotes: 0

East Asian
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Other
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num of homozygotes: 0

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

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

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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VQSLOD
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DP
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InbreedingCoeff
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FS
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BaseQRankSum
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QD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQ
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 1.200912693647172e-4
allele num: 8327
num of homozygotes: 0

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
allele num: 4530
num of homozygotes: 0

Other
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num of homozygotes: 0

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

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

African
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East Asian
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Other
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Latino
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 4.200092402032845e-5
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num of homozygotes: 0

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

East Asian
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allele frequency: 9.038867128653209e-4
allele num: 6638
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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African
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ClippingRankSum
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MQRankSum
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VQSLOD
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QD
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BaseQRankSum
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MQ
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ReadPosRankSum
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DP
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FS
type: SiteQuality
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 2.099605274208449e-5
allele num: 47628
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African
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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: 4530
num of homozygotes: 0

South Asian
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East Asian
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allele frequency: 1.506477854775535e-4
allele num: 6638
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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Other
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East Asian
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allele frequency: 3.01295570955107e-3
allele num: 6638
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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African
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Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 6.277857994852157e-5
allele num: 47787
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European (Finnish)
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allele frequency: 0.0e0
allele num: 4530
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South Asian
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MQ
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MQRankSum
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

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

African
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South Asian
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Latino
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East Asian
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European (Non-Finnish)
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allele count: 4
allele frequency: 8.370127016677478e-5
allele num: 47789
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Other
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MQ
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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QD
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BaseQRankSum
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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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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European (Non-Finnish)
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South Asian
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African
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East Asian
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Other
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QD
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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MQ
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BaseQRankSum
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FS
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ReadPosRankSum
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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African
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South Asian
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European (Non-Finnish)
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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DP
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FS
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MQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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European (Non-Finnish)
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Other
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African
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Latino
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South Asian
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FS
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MQRankSum
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VQSLOD
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QD
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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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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European (Non-Finnish)
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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QD
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ReadPosRankSum
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FS
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DP
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InbreedingCoeff
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Other
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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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East Asian
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ClippingRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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DP
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VQSLOD
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SIO_000300: -2.377e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.83e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.557e0

MQ
type: SiteQuality
SIO_000300: 5.151e1

QD
type: SiteQuality
SIO_000300: 1.267e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8421
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.091131511260743e-5
allele num: 47821
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10125
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.137e1

DP
type: SiteQuality
SIO_000300: 1.586902e6

MQ
type: SiteQuality
SIO_000300: 5.207e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.42e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.74e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

VQSLOD
type: SiteQuality
SIO_000300: -1.926e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.43e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47549
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.506477854775535e-4
allele num: 6638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10125
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8280
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9322
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.459e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

DP
type: SiteQuality
SIO_000300: 1.577755e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.92e-1

QD
type: SiteQuality
SIO_000300: 3.265e1

MQ
type: SiteQuality
SIO_000300: 5.598e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.1e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10125
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8165
num of homozygotes: 0

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

East Asian
type: Population
allele count: 13
allele frequency: 1.958421211208195e-3
allele num: 6638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9321
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

MQ
type: SiteQuality
SIO_000300: 4.654e1

FS
type: SiteQuality
SIO_000300: 2.476e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

QD
type: SiteQuality
SIO_000300: 1.941e1

VQSLOD
type: SiteQuality
SIO_000300: 4.99e-1

DP
type: SiteQuality
SIO_000300: 1.575141e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.88e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47387
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8163
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.876543209876543e-5
allele num: 10125
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9321
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 3.169572107765452e-3
allele num: 631
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.74e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.626e0

QD
type: SiteQuality
SIO_000300: 2.678e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 4.722e1

FS
type: SiteQuality
SIO_000300: 1.74e1

DP
type: SiteQuality
SIO_000300: 1.574389e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.34e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.110417018402837e-5
allele num: 47384
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10125
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9321
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8171
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.858000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.78e-1

DP
type: SiteQuality
SIO_000300: 1.574425e6

QD
type: SiteQuality
SIO_000300: 1.477e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.283e0

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

MQ
type: SiteQuality
SIO_000300: 4.573e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10125
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.072961373390558e-4
allele num: 9320
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.788e1

MQ
type: SiteQuality
SIO_000300: 4.436e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.263e0

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

FS
type: SiteQuality
SIO_000300: 3.429e0

DP
type: SiteQuality
SIO_000300: 1.574745e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 7

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10125
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.098415696149407e-5
allele num: 47655
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 6.437768240343348e-4
allele num: 9320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8285
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.78e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

MQ
type: SiteQuality
SIO_000300: 4.922e1

MQRankSum
type: SiteQuality
SIO_000300: -4.33e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-2

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

DP
type: SiteQuality
SIO_000300: 1.585213e6

QD
type: SiteQuality
SIO_000300: 1.475e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9320
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.206127125799059e-4
allele num: 8291
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47669
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.876543209876543e-5
allele num: 10125
num of homozygotes: 0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -8.19e-1

FS
type: SiteQuality
SIO_000300: 7.7952e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

MQ
type: SiteQuality
SIO_000300: 4.587e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6730
bin: 6.75e1
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47635
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8296
num of homozygotes: 0

East Asian
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South Asian
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allele count: 9
allele frequency: 8.889766890557092e-4
allele num: 10124
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.831e1

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.4e-2

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47623
num of homozygotes: 0

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

African
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South Asian
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allele frequency: 2.963255630185698e-4
allele num: 10124
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 9320
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.48e-1

FS
type: SiteQuality
SIO_000300: 5.4794e1

MQRankSum
type: SiteQuality
SIO_000300: -3.64e-1

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 4.752e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.582873e6

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8291
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9320
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.100575557702811e-5
allele num: 47606
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6638
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.453e0

MQ
type: SiteQuality
SIO_000300: 5.099e1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.582387e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 6637
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 47534
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.212415130940834e-4
allele num: 8248
num of homozygotes: 0

South Asian
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allele num: 10119
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.922e0

FS
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10119
num of homozygotes: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6637
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47519
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.548e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-2

FS
type: SiteQuality
SIO_000300: 4.923e0

MQRankSum
type: SiteQuality
SIO_000300: 6.870000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

QD
type: SiteQuality
SIO_000300: 5.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

DP
type: SiteQuality
SIO_000300: 1.578541e6

MQ
type: SiteQuality
SIO_000300: 4.28e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.49e-1

GenotypeQuality
all individuals: 3577
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 1200
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2023
bin: 8.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.207505518763797e-4
allele num: 4530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 2.327254263106673e-4
allele num: 47266
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9312
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6634
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10115
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.81e-2

MQ
type: SiteQuality
SIO_000300: 4.406e1

VQSLOD
type: SiteQuality
SIO_000300: -1.545e0

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.3e-2

DP
type: SiteQuality
SIO_000300: 1.573961e6

FS
type: SiteQuality
SIO_000300: 5.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.909999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.8e-1

QD
type: SiteQuality
SIO_000300: 1.512e1

GenotypeQuality
all individuals: 2021
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1201
bin: 9.25e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47109
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6633
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.977652526451103e-4
allele num: 10113
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.447e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.062e1

MQ
type: SiteQuality
SIO_000300: 4.385e1

DP
type: SiteQuality
SIO_000300: 1.568999e6

GenotypeQuality
all individuals: 2018
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6644
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7828
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10105
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46856
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.149151085321298e-4
allele num: 9306
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6631
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.74e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.96e0

DP
type: SiteQuality
SIO_000300: 1.562657e6

VQSLOD
type: SiteQuality
SIO_000300: -2.842e0

MQ
type: SiteQuality
SIO_000300: 4.458e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 1.818e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.303e0