13-52518382-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52518382
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52518382
    reference: chr 13
allele count: 14
allele frequency: 1.183131919208992e-4
allele num: 118330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2911G>A
  hgvsp: ENSP00000393343.2:p.Val971Ile
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3106G>A
  hgvsp: ENSP00000242839.4:p.Val1036Ile
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2773G>A
  hgvsp: ENSP00000383217.3:p.Val925Ile
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2485G>A
  hgvsp: ENSP00000342559.5:p.Val829Ile
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.877-1692G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1816G>A
  hgvsp: ENSP00000383221.3:p.Val606Ile
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.2041G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2872G>A
  hgvsp: ENSP00000416738.2:p.Val958Ile
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.326G>A
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7690
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 26550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20089
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 9.25e1
  variant carriers: 1
hgvs: p.Val1036Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

13-52518383-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52518383
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52518383
    reference: chr 13
allele count: 20
allele frequency: 1.691246110133947e-4
allele num: 118256
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.877-1693C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1815C>T
  hgvsp: ENST00000400370.3:c.1815C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2871C>T
  hgvsp: ENST00000448424.2:c.2871C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3105C>T
  hgvsp: ENST00000242839.4:c.3105C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2484C>T
  hgvsp: ENST00000344297.5:c.2484C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.325C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2910C>T
  hgvsp: ENST00000418097.2:c.2910C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.2040C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2772C>T
  hgvsp: ENST00000400366.3:c.2772C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1921
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26555
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7686
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2153
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly1035Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

13-52518384-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52518384
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52518384
    reference: chr 13
allele count: 1
allele frequency: 8.455515532782033e-6
allele num: 118266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2771G>A
  hgvsp: ENSP00000383217.3:p.Gly924Asp
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2870G>A
  hgvsp: ENSP00000416738.2:p.Gly957Asp
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2483G>A
  hgvsp: ENSP00000342559.5:p.Gly828Asp
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3104G>A
  hgvsp: ENSP00000242839.4:p.Gly1035Asp
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1814G>A
  hgvsp: ENSP00000383221.3:p.Gly605Asp
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.877-1694G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2909G>A
  hgvsp: ENSP00000393343.2:p.Gly970Asp
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.2039G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.324G>A
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7639
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly1035Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

13-52518387-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52518387
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52518387
    reference: chr 13
allele count: 141
allele frequency: 1.193741745402824e-3
allele num: 118116
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.321A>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2867A>G
  hgvsp: ENSP00000416738.2:p.His956Arg
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2480A>G
  hgvsp: ENSP00000342559.5:p.His827Arg
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2906A>G
  hgvsp: ENSP00000393343.2:p.His969Arg
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.2036A>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1811A>G
  hgvsp: ENSP00000383221.3:p.His604Arg
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2768A>G
  hgvsp: ENSP00000383217.3:p.His923Arg
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.877-1697A>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&likely_pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3101A>G
  hgvsp: ENSP00000242839.4:p.His1034Arg
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 26475
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7582
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20024
  bin: 2.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.25e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His1034Arg
num of homozygotes: 3
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

13-52518394-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52518394
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52518394
    reference: chr 13
allele count: 2
allele frequency: 1.696957355461657e-5
allele num: 117858
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1804A>G
  hgvsp: ENSP00000383221.3:p.Ile602Val
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2860A>G
  hgvsp: ENSP00000416738.2:p.Ile954Val
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.877-1704A>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.2029A>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3094A>G
  hgvsp: ENSP00000242839.4:p.Ile1032Val
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.314A>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2473A>G
  hgvsp: ENSP00000342559.5:p.Ile825Val
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2899A>G
  hgvsp: ENSP00000393343.2:p.Ile967Val
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2761A>G
  hgvsp: ENSP00000383217.3:p.Ile921Val
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1285
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile1032Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

13-52518398-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52518398
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52518398
    reference: chr 13
allele count: 1
allele frequency: 8.504847763225038e-6
allele num: 117580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1800C>T
  hgvsp: ENST00000400370.3:c.1800C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3090C>T
  hgvsp: ENST00000242839.4:c.3090C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.2025C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2856C>T
  hgvsp: ENST00000448424.2:c.2856C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2757C>T
  hgvsp: ENST00000400366.3:c.2757C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.310C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2469C>T
  hgvsp: ENST00000344297.5:c.2469C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.877-1708C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2895C>T
  hgvsp: ENST00000418097.2:c.2895C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly1030Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

13-52518406-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52518406
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52518406
    reference: chr 13
allele count: 1
allele frequency: 8.534607834769993e-6
allele num: 117170
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.877-1716A>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2887A>G
  hgvsp: ENSP00000393343.2:p.Lys963Glu
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1792A>G
  hgvsp: ENSP00000383221.3:p.Lys598Glu
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.302A>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3082A>G
  hgvsp: ENSP00000242839.4:p.Lys1028Glu
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2749A>G
  hgvsp: ENSP00000383217.3:p.Lys917Glu
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2461A>G
  hgvsp: ENSP00000342559.5:p.Lys821Glu
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2848A>G
  hgvsp: ENSP00000416738.2:p.Lys950Glu
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.2017A>G
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys1028Glu
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

13-52518419-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52518419
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52518419
    reference: chr 13
allele count: 11
allele frequency: 9.489139248805231e-5
allele num: 115922
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3069T>C
  hgvsp: ENST00000242839.4:c.3069T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2736T>C
  hgvsp: ENST00000400366.3:c.2736T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2835T>C
  hgvsp: ENST00000448424.2:c.2835T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.2004T>C
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.289T>C
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2448T>C
  hgvsp: ENST00000344297.5:c.2448T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.877-1729T>C
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1779T>C
  hgvsp: ENST00000400370.3:c.1779T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2874T>C
  hgvsp: ENST00000418097.2:c.2874T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7368
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25690
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40542
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr1023Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

13-52518421-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52518421
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52518421
    reference: chr 13
allele count: 1
allele frequency: 8.644835575227359e-6
allele num: 115676
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.877-1731A>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2734A>G
  hgvsp: ENSP00000383217.3:p.Thr912Ala
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.2002A>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3067A>G
  hgvsp: ENSP00000242839.4:p.Thr1023Ala
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1777A>G
  hgvsp: ENSP00000383221.3:p.Thr593Ala
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2446A>G
  hgvsp: ENSP00000342559.5:p.Thr816Ala
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2833A>G
  hgvsp: ENSP00000416738.2:p.Thr945Ala
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2872A>G
  hgvsp: ENSP00000393343.2:p.Thr958Ala
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.287A>G
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6441
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr1023Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

13-52518427-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52518427
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52518427
    reference: chr 13
allele count: 2
allele frequency: 1.736111111111111e-5
allele num: 115200
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1996A>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2728A>G
  hgvsp: ENSP00000383217.3:p.Ile910Val
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.281A>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3061A>G
  hgvsp: ENSP00000242839.4:p.Ile1021Val
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2440A>G
  hgvsp: ENSP00000342559.5:p.Ile814Val
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2827A>G
  hgvsp: ENSP00000416738.2:p.Ile943Val
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1771A>G
  hgvsp: ENSP00000383221.3:p.Ile591Val
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866A>G
  hgvsp: ENSP00000393343.2:p.Ile956Val
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.877-1737A>G
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6333
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile1021Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum

13-52518428-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52518428
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52518428
    reference: chr 13
allele count: 1
allele frequency: 8.696105883785241e-6
allele num: 114994
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3061-1G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.281-1G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-1G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1771-1G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2728-1G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2440-1G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2827-1G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1996-1G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.877-1738G>A
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7298
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24879
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1546
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
hgvs: c.3061-1G>A
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

13-52518441-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52518441
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52518441
    reference: chr 13
allele count: 1
allele frequency: 8.790899660671274e-6
allele num: 113754
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-14G>C
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.877-1751G>C
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2440-14G>C
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.281-14G>C
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1771-14G>C
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2728-14G>C
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3061-14G>C
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1996-14G>C
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2827-14G>C
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16604
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6898
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4829
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1629
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

13-52518447-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52518447
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52518447
    reference: chr 13
allele count: 1
allele frequency: 8.8265927586633e-6
allele num: 113294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2440-20G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3061-20G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-20G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2827-20G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2728-20G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1771-20G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.877-1757G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1996-20G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.281-20G>A
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15554
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5321
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5643
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2280
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

13-52518453-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52518453
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52518453
    reference: chr 13
allele count: 1
allele frequency: 8.876580031245562e-6
allele num: 112656
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3061-26C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.281-26C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1996-26C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-26C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2728-26C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1771-26C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2827-26C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2440-26C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.877-1763C>T
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19489
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2379
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

13-52518458-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52518458
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52518458
    reference: chr 13
allele count: 1
allele frequency: 8.915039671926539e-6
allele num: 112170
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2827-31G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.281-31G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2440-31G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3061-31G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2728-31G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.877-1768G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-31G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1771-31G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1996-31G>A
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7882
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4367
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4921
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

13-52518459-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52518459
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52518459
    reference: chr 13
allele count: 2
allele frequency: 1.782753641274312e-5
allele num: 112186
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2440-32T>C
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.877-1769T>C
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.281-32T>C
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1771-32T>C
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2827-32T>C
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1996-32T>C
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2728-32T>C
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3061-32T>C
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-32T>C
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10954
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11268
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8737
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1724
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3107
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7728
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

13-52518473-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52518473
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52518473
    reference: chr 13
allele count: 1
allele frequency: 9.159354448698456e-6
allele num: 109178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.877-1783C>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1771-46C>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2827-46C>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.281-46C>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2728-46C>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-46C>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3061-46C>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2440-46C>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1996-46C>A
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3599
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12737
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3348
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3840
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

13-52518475-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52518475
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52518475
    reference: chr 13
allele count: 1
allele frequency: 9.222539887485013e-6
allele num: 108430
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2728-48G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-48G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2827-48G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3061-48G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1996-48G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1771-48G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.281-48G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.877-1785G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2440-48G>A
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13229
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10965
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6756
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8933
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5258
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3075
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/13-52518479-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52518479
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52518479
    reference: chr 13
allele count: 1
allele frequency: 9.31584438813534e-6
allele num: 107344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2440-52G>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1996-52G>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2827-52G>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.877-1789G>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-52G>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1771-52G>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3061-52G>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2728-52G>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.281-52G>T
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15239
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3833
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1621
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8329
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10980
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3922
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3782
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3441
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum

13-52520371-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520371
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520371
    reference: chr 13
allele count: 1
allele frequency: 4.84214603912454e-5
allele num: 20652
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1770+49C>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.876+49C>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2439+49C>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1995+49C>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2826+49C>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2727+49C>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3060+49C>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-1944C>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.280+49C>G
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33808
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5903
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22852
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6223
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD

13-52520375-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520375
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520375
    reference: chr 13
allele count: 1
allele frequency: 4.829984544049459e-5
allele num: 20704
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.280+45G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1995+45G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2826+45G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.876+45G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1770+45G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-1948G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2727+45G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3060+45G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2439+45G>A
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33780
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1805
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5048
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2850
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

13-52520379-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520379
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520379
    reference: chr 13
allele count: 5
allele frequency: 2.399923202457521e-4
allele num: 20834
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.876+41A>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2826+41A>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.280+41A>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1770+41A>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-1952A>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1995+41A>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2727+41A>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2439+41A>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3060+41A>G
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33462
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3330
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7838
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

13-52520386-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520386
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520386
    reference: chr 13
allele count: 1
allele frequency: 4.73260766682442e-5
allele num: 21130
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2826+34A>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.280+34A>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-1959A>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2727+34A>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2439+34A>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3060+34A>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1995+34A>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.876+34A>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1770+34A>G
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 31039
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16422
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1777
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

13-52520398-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520398
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520398
    reference: chr 13
allele count: 0
allele frequency: 0.0e0
allele num: 22580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2826+22C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1770+22C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-1971C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2439+22C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1995+22C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.280+22C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3060+22C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.876+22C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2727+22C>T
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24072
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23744
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20741
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2271
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 8.25e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

13-52520398-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520398
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520398
    reference: chr 13
allele count: 1
allele frequency: 4.428697962798937e-5
allele num: 22580
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2439+22C>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1995+22C>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-1971C>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.876+22C>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2826+22C>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3060+22C>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1770+22C>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2727+22C>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.280+22C>G
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24072
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20741
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/13-52520404-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520404
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520404
    reference: chr 13
allele count: 140
allele frequency: 5.885320329577938e-3
allele num: 23788
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.876+16G>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.280+16G>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2439+16G>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2727+16G>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1770+16G>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1995+16G>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2826+16G>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3060+16G>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-1977G>T
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 1.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 20215
  bin: 2.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27220
  bin: 7.5e0
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 2570
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 7.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 24360
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 9.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 8
num of homozygotes: 2
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

13-52520411-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520411
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520411
    reference: chr 13
allele count: 0
allele frequency: 0.0e0
allele num: 25876
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.280+9G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1770+9G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3060+9G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-1984G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.876+9G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1995+9G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2727+9G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2826+9G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2439+9G>A
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 15120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31674
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2889
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 9.25e1
  variant carriers: 1
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: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

13-52520426-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520426
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520426
    reference: chr 13
allele count: 6
allele frequency: 1.92e-4
allele num: 31250
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2721G>A
  hgvsp: ENST00000400366.3:c.2721G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1764G>A
  hgvsp: ENST00000400370.3:c.1764G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3054G>A
  hgvsp: ENST00000242839.4:c.3054G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1989G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2433G>A
  hgvsp: ENST00000344297.5:c.2433G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2820G>A
  hgvsp: ENST00000448424.2:c.2820G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.870G>A
  hgvsp: ENST00000417240.2:c.870G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.274G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-1999G>A
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4380
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8708
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35274
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 7.75e1
  variant carriers: 1
hgvs: p.Ala1018Ala
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

13-52520427-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520427
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520427
    reference: chr 13
allele count: 3
allele frequency: 9.267268009390831e-5
allele num: 32372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.273C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2720C>T
  hgvsp: ENSP00000383217.3:p.Ala907Val
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.869C>T
  hgvsp: ENSP00000390360.2:p.Ala290Val
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1763C>T
  hgvsp: ENSP00000383221.3:p.Ala588Val
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2000C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2819C>T
  hgvsp: ENSP00000416738.2:p.Ala940Val
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2432C>T
  hgvsp: ENSP00000342559.5:p.Ala811Val
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3053C>T
  hgvsp: ENSP00000242839.4:p.Ala1018Val
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1988C>T
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35421
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4608
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8078
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3862
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33462
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala1018Val
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

13-52520429-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520429
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520429
    reference: chr 13
allele count: 1
allele frequency: 2.924147610971402e-5
allele num: 34198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2718G>A
  hgvsp: ENSP00000383217.3:p.Met906Ile
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.271G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1986G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2430G>A
  hgvsp: ENSP00000342559.5:p.Met810Ile
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1761G>A
  hgvsp: ENSP00000383221.3:p.Met587Ile
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2817G>A
  hgvsp: ENSP00000416738.2:p.Met939Ile
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.867G>A
  hgvsp: ENSP00000390360.2:p.Met289Ile
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3051G>A
  hgvsp: ENSP00000242839.4:p.Met1017Ile
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2002G>A
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7301
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1825
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2895
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4274
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met1017Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

13-52520435-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520435
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520435
    reference: chr 13
allele count: 2157
allele frequency: 5.492462823385618e-2
allele num: 39272
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2424G>A
  hgvsp: ENST00000344297.5:c.2424G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.861G>A
  hgvsp: ENST00000417240.2:c.861G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.265G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2811G>A
  hgvsp: ENST00000448424.2:c.2811G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3045G>A
  hgvsp: ENST00000242839.4:c.3045G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2008G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2712G>A
  hgvsp: ENST00000400366.3:c.2712G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1980G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1755G>A
  hgvsp: ENST00000400370.3:c.1755G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 6.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 3.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 6275
  bin: 1.25e1
  variant carriers: 1006
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 34652
  bin: 7.5e0
  variant carriers: 584
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 1.75e1
  variant carriers: 490
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 2.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 2.25e1
  variant carriers: 175
genotype depth: GenotypeDepth
  all individuals: 5411
  bin: 2.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 3.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 1.75e1
  variant carriers: 23
hgvs: p.Leu1015Leu
num of homozygotes: 53
population: Other
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

13-52520437-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520437
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520437
    reference: chr 13
allele count: 1
allele frequency: 2.46669955599408e-5
allele num: 40540
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1753C>T
  hgvsp: ENST00000400370.3:c.1753C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3043C>T
  hgvsp: ENST00000242839.4:c.3043C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1978C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2422C>T
  hgvsp: ENST00000344297.5:c.2422C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.859C>T
  hgvsp: ENST00000417240.2:c.859C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.263C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2710C>T
  hgvsp: ENST00000400366.3:c.2710C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2809C>T
  hgvsp: ENST00000448424.2:c.2809C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2010C>T
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4862
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6562
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu1015Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/13-52520445-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520445
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520445
    reference: chr 13
allele count: 3
allele frequency: 6.742179072276159e-5
allele num: 44496
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1970G>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3035G>T
  hgvsp: ENSP00000242839.4:p.Gly1012Val
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1745G>T
  hgvsp: ENSP00000383221.3:p.Gly582Val
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.255G>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2414G>T
  hgvsp: ENSP00000342559.5:p.Gly805Val
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2801G>T
  hgvsp: ENSP00000416738.2:p.Gly934Val
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2702G>T
  hgvsp: ENSP00000383217.3:p.Gly901Val
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.851G>T
  hgvsp: ENSP00000390360.2:p.Gly284Val
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2018G>T
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7367
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5823
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3795
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1121
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1032
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly1012Val
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

13-52520447-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520447
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520447
    reference: chr 13
allele count: 1
allele frequency: 2.136660826460408e-5
allele num: 46802
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1743A>T
  hgvsp: ENST00000400370.3:c.1743A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2020A>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2412A>T
  hgvsp: ENST00000344297.5:c.2412A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2700A>T
  hgvsp: ENST00000400366.3:c.2700A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3033A>T
  hgvsp: ENST00000242839.4:c.3033A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2799A>T
  hgvsp: ENST00000448424.2:c.2799A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.849A>T
  hgvsp: ENST00000417240.2:c.849A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1968A>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.253A>T
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3454
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1844
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7543
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly1011Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: T
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

13-52520451-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520451
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520451
    reference: chr 13
allele count: 1
allele frequency: 2.034174125305126e-5
allele num: 49160
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1964A>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3029A>G
  hgvsp: ENSP00000242839.4:p.Lys1010Arg
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2795A>G
  hgvsp: ENSP00000416738.2:p.Lys932Arg
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.845A>G
  hgvsp: ENSP00000390360.2:p.Lys282Arg
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1739A>G
  hgvsp: ENSP00000383221.3:p.Lys580Arg
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2024A>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2408A>G
  hgvsp: ENSP00000342559.5:p.Lys803Arg
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.249A>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2696A>G
  hgvsp: ENSP00000383217.3:p.Lys899Arg
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2543
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7723
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2659
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3195
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 628
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys1010Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

13-52520458-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520458
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520458
    reference: chr 13
allele count: 2
allele frequency: 3.746862003072427e-5
allele num: 53378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1732C>T
  hgvsp: ENSP00000383221.3:p.Leu578Phe
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2788C>T
  hgvsp: ENSP00000416738.2:p.Leu930Phe
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.242C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.838C>T
  hgvsp: ENSP00000390360.2:p.Leu280Phe
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2401C>T
  hgvsp: ENSP00000342559.5:p.Leu801Phe
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2031C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1957C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3022C>T
  hgvsp: ENSP00000242839.4:p.Leu1008Phe
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2689C>T
  hgvsp: ENSP00000383217.3:p.Leu897Phe
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2692
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8096
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30998
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8209
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2902
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3053
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu1008Phe
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

13-52520464-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520464
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520464
    reference: chr 13
allele count: 3
allele frequency: 5.143151037202126e-5
allele num: 58330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.832G>A
  hgvsp: ENSP00000390360.2:p.Gly278Ser
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2782G>A
  hgvsp: ENSP00000416738.2:p.Gly928Ser
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1726G>A
  hgvsp: ENSP00000383221.3:p.Gly576Ser
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3016G>A
  hgvsp: ENSP00000242839.4:p.Gly1006Ser
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1951G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.236G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2037G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2683G>A
  hgvsp: ENSP00000383217.3:p.Gly895Ser
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2395G>A
  hgvsp: ENSP00000342559.5:p.Gly799Ser
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9590
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29013
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8482
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1757
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2877
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly1006Ser
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

13-52520465-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520465
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520465
    reference: chr 13
allele count: 123
allele frequency: 2.026693030153238e-3
allele num: 60690
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1725C>T
  hgvsp: ENST00000400370.3:c.1725C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2781C>T
  hgvsp: ENST00000448424.2:c.2781C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.235C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.831C>T
  hgvsp: ENST00000417240.2:c.831C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2038C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2682C>T
  hgvsp: ENST00000400366.3:c.2682C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3015C>T
  hgvsp: ENST00000242839.4:c.3015C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2394C>T
  hgvsp: ENST00000344297.5:c.2394C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1950C>T
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27969
  bin: 7.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8360
  bin: 1.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 1.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3233
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10832
  bin: 2.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1711
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn1005Asn
num of homozygotes: 2
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

13-52520471-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520471
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520471
    reference: chr 13
allele count: 6164
allele frequency: 8.675092183409801e-2
allele num: 71054
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.825G>A
  hgvsp: ENST00000417240.2:c.825G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2775G>A
  hgvsp: ENST00000448424.2:c.2775G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.229G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2044G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3009G>A
  hgvsp: ENST00000242839.4:c.3009G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2676G>A
  hgvsp: ENST00000400366.3:c.2676G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1719G>A
  hgvsp: ENST00000400370.3:c.1719G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2388G>A
  hgvsp: ENST00000344297.5:c.2388G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1944G>A
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 3.25e1
  variant carriers: 184
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 149
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.75e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.25e1
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 8711
  bin: 1.25e1
  variant carriers: 1413
genotype depth: GenotypeDepth
  all individuals: 13451
  bin: 2.25e1
  variant carriers: 977
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.25e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 2.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 1.75e1
  variant carriers: 1684
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.25e1
  variant carriers: 151
genotype depth: GenotypeDepth
  all individuals: 3617
  bin: 2.75e1
  variant carriers: 386
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 22887
  bin: 7.5e0
  variant carriers: 431
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 3.75e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 61
genotype quality: GenotypeQuality
  all individuals: 1538
  bin: 6.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 2.5e0
  variant carriers: 6
hgvs: p.Ala1003Ala
num of homozygotes: 212
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

13-52520472-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520472
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520472
    reference: chr 13
allele count: 7
allele frequency: 9.442870632672332e-5
allele num: 74130
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.824C>T
  hgvsp: ENSP00000390360.2:p.Ala275Val
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1718C>T
  hgvsp: ENSP00000383221.3:p.Ala573Val
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3008C>T
  hgvsp: ENSP00000242839.4:p.Ala1003Val
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.228C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2675C>T
  hgvsp: ENSP00000383217.3:p.Ala892Val
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1943C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2045C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2387C>T
  hgvsp: ENSP00000342559.5:p.Ala796Val
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2774C>T
  hgvsp: ENSP00000416738.2:p.Ala925Val
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22034
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14625
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3229
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3715
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala1003Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

13-52520473-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520473
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520473
    reference: chr 13
allele count: 2
allele frequency: 2.677161138328916e-5
allele num: 74706
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1942G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2674G>A
  hgvsp: ENSP00000383217.3:p.Ala892Thr
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3007G>A
  hgvsp: ENSP00000242839.4:p.Ala1003Thr
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2773G>A
  hgvsp: ENSP00000416738.2:p.Ala925Thr
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2386G>A
  hgvsp: ENSP00000342559.5:p.Ala796Thr
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.227G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.823G>A
  hgvsp: ENSP00000390360.2:p.Ala275Thr
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2046G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1717G>A
  hgvsp: ENSP00000383221.3:p.Ala573Thr
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4538
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14718
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21623
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1875
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3241
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22667
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala1003Thr
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ

13-52520474-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520474
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520474
    reference: chr 13
allele count: 14
allele frequency: 1.822489520685256e-4
allele num: 76818
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1716C>T
  hgvsp: ENST00000400370.3:c.1716C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2772C>T
  hgvsp: ENST00000448424.2:c.2772C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2385C>T
  hgvsp: ENST00000344297.5:c.2385C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.822C>T
  hgvsp: ENST00000417240.2:c.822C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1941C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2047C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2673C>T
  hgvsp: ENST00000400366.3:c.2673C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.3006C>T
  hgvsp: ENST00000242839.4:c.3006C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.226C>T
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20748
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15674
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8262
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4386
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3727
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala1002Ala
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

13-52520482-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520482
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520482
    reference: chr 13
allele count: 1
allele frequency: 1.160846953937593e-5
allele num: 86144
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2377G>C
  hgvsp: ENSP00000342559.5:p.Gly793Arg
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2764G>C
  hgvsp: ENSP00000416738.2:p.Gly922Arg
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2055G>C
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2665G>C
  hgvsp: ENSP00000383217.3:p.Gly889Arg
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.218G>C
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.814G>C
  hgvsp: ENSP00000390360.2:p.Gly272Arg
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.2998G>C
  hgvsp: ENSP00000242839.4:p.Gly1000Arg
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1708G>C
  hgvsp: ENSP00000383221.3:p.Gly570Arg
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1933G>C
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20251
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly1000Arg
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

13-52520482-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520482
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520482
    reference: chr 13
allele count: 7
allele frequency: 8.12592867756315e-5
allele num: 86144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1708G>A
  hgvsp: ENSP00000383221.3:p.Gly570Arg
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2665G>A
  hgvsp: ENSP00000383217.3:p.Gly889Arg
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2377G>A
  hgvsp: ENSP00000342559.5:p.Gly793Arg
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1933G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.2998G>A
  hgvsp: ENSP00000242839.4:p.Gly1000Arg
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.218G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.814G>A
  hgvsp: ENSP00000390360.2:p.Gly272Arg
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2764G>A
  hgvsp: ENSP00000416738.2:p.Gly922Arg
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2055G>A
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7258
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2196
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16325
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20551
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5587
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly1000Arg
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

13-52520483-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520483
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520483
    reference: chr 13
allele count: 6
allele frequency: 6.79009551401023e-5
allele num: 88364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2376C>T
  hgvsp: ENST00000344297.5:c.2376C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1932C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.217C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2664C>T
  hgvsp: ENST00000400366.3:c.2664C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2763C>T
  hgvsp: ENST00000448424.2:c.2763C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1707C>T
  hgvsp: ENST00000400370.3:c.1707C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.2997C>T
  hgvsp: ENST00000242839.4:c.2997C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2056C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.813C>T
  hgvsp: ENST00000417240.2:c.813C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3573
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21767
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6901
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16699
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3735
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2623
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr999Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

13-52520483-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520483
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520483
    reference: chr 13
allele count: 3
allele frequency: 3.395047757005115e-5
allele num: 88364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2763C>G
  hgvsp: ENST00000448424.2:c.2763C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.2997C>G
  hgvsp: ENST00000242839.4:c.2997C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.217C>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2664C>G
  hgvsp: ENST00000400366.3:c.2664C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2376C>G
  hgvsp: ENST00000344297.5:c.2376C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2056C>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1707C>G
  hgvsp: ENST00000400370.3:c.1707C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.813C>G
  hgvsp: ENST00000417240.2:c.813C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1932C>G
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15367
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6901
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3573
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2679
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr999Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP

13-52520486-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520486
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520486
    reference: chr 13
allele count: 10
allele frequency: 1.06553010122536e-4
allele num: 93850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2760C>T
  hgvsp: ENST00000448424.2:c.2760C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2059C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.214C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2661C>T
  hgvsp: ENST00000400366.3:c.2661C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2373C>T
  hgvsp: ENST00000344297.5:c.2373C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1929C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.2994C>T
  hgvsp: ENST00000242839.4:c.2994C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.810C>T
  hgvsp: ENST00000417240.2:c.810C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1704C>T
  hgvsp: ENST00000400370.3:c.1704C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6002
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12931
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6418
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25326
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26219
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly998Gly
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/13-52520492-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520492
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520492
    reference: chr 13
allele count: 0
allele frequency: 0.0e0
allele num: 100388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2065G>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.804G>T
  hgvsp: ENSP00000390360.2:p.Met268Ile
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.2988G>T
  hgvsp: ENSP00000242839.4:p.Met996Ile
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1923G>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2367G>T
  hgvsp: ENSP00000342559.5:p.Met789Ile
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2655G>T
  hgvsp: ENSP00000383217.3:p.Met885Ile
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2754G>T
  hgvsp: ENSP00000416738.2:p.Met918Ile
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1698G>T
  hgvsp: ENSP00000383221.3:p.Met566Ile
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.208G>T
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29272
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1570
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10809
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30226
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met996Ile
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

13-52520493-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520493
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520493
    reference: chr 13
allele count: 1
allele frequency: 9.883376161296698e-6
allele num: 101180
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.803T>C
  hgvsp: ENSP00000390360.2:p.Met268Thr
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2654T>C
  hgvsp: ENSP00000383217.3:p.Met885Thr
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2366T>C
  hgvsp: ENSP00000342559.5:p.Met789Thr
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1922T>C
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2753T>C
  hgvsp: ENSP00000416738.2:p.Met918Thr
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1697T>C
  hgvsp: ENSP00000383221.3:p.Met566Thr
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.207T>C
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2066T>C
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.2987T>C
  hgvsp: ENSP00000242839.4:p.Met996Thr
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29686
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4610
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30409
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Met996Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

13-52520495-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520495
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520495
    reference: chr 13
allele count: 2
allele frequency: 1.957790046595403e-5
allele num: 102156
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2652C>T
  hgvsp: ENST00000400366.3:c.2652C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2068C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2364C>T
  hgvsp: ENST00000344297.5:c.2364C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1695C>T
  hgvsp: ENST00000400370.3:c.1695C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.205C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.801C>T
  hgvsp: ENST00000417240.2:c.801C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1920C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.2985C>T
  hgvsp: ENST00000242839.4:c.2985C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2751C>T
  hgvsp: ENST00000448424.2:c.2751C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30191
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8971
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val995Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

13-52520496-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520496
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520496
    reference: chr 13
allele count: 2
allele frequency: 1.944503859840162e-5
allele num: 102854
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.2984T>C
  hgvsp: ENSP00000242839.4:p.Val995Ala
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2363T>C
  hgvsp: ENSP00000342559.5:p.Val788Ala
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2069T>C
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2750T>C
  hgvsp: ENSP00000416738.2:p.Val917Ala
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.800T>C
  hgvsp: ENSP00000390360.2:p.Val267Ala
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2651T>C
  hgvsp: ENSP00000383217.3:p.Val884Ala
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1694T>C
  hgvsp: ENSP00000383221.3:p.Val565Ala
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1919T>C
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.204T>C
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2607
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8642
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3512
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val995Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

13-52520501-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520501
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520501
    reference: chr 13
allele count: 1
allele frequency: 9.363646578523541e-6
allele num: 106796
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1689G>C
  hgvsp: ENST00000400370.3:c.1689G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1914G>C
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.2979G>C
  hgvsp: ENST00000242839.4:c.2979G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2646G>C
  hgvsp: ENST00000400366.3:c.2646G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2745G>C
  hgvsp: ENST00000448424.2:c.2745G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2358G>C
  hgvsp: ENST00000344297.5:c.2358G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2074G>C
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.795G>C
  hgvsp: ENST00000417240.2:c.795G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.199G>C
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr993Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

13-52520501-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520501
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520501
    reference: chr 13
allele count: 4
allele frequency: 3.745458631409416e-5
allele num: 106796
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.199G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1689G>A
  hgvsp: ENST00000400370.3:c.1689G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.795G>A
  hgvsp: ENST00000417240.2:c.795G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.2979G>A
  hgvsp: ENST00000242839.4:c.2979G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2358G>A
  hgvsp: ENST00000344297.5:c.2358G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2646G>A
  hgvsp: ENST00000400366.3:c.2646G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2745G>A
  hgvsp: ENST00000448424.2:c.2745G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1914G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2074G>A
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32287
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1424
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr993Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

13-52520502-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520502
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520502
    reference: chr 13
allele count: 13
allele frequency: 1.195160519251278e-4
allele num: 108772
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1688C>T
  hgvsp: ENSP00000383221.3:p.Thr563Met
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.794C>T
  hgvsp: ENSP00000390360.2:p.Thr265Met
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2645C>T
  hgvsp: ENSP00000383217.3:p.Thr882Met
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.2978C>T
  hgvsp: ENSP00000242839.4:p.Thr993Met
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2744C>T
  hgvsp: ENSP00000416738.2:p.Thr915Met
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2357C>T
  hgvsp: ENSP00000342559.5:p.Thr786Met
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2075C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1913C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.198C>T
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2929
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5788
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33481
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9452
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr993Met
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP

13-52520504-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520504
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520504
    reference: chr 13
allele count: 1
allele frequency: 9.066840750009067e-6
allele num: 110292
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1686C>T
  hgvsp: ENST00000400370.3:c.1686C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2742C>T
  hgvsp: ENST00000448424.2:c.2742C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.792C>T
  hgvsp: ENST00000417240.2:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2643C>T
  hgvsp: ENST00000400366.3:c.2643C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.2976C>T
  hgvsp: ENST00000242839.4:c.2976C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2355C>T
  hgvsp: ENST00000344297.5:c.2355C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.196C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1911C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2077C>T
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3772
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro992Pro
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

13-52520504-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520504
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520504
    reference: chr 13
allele count: 6
allele frequency: 5.44010445000544e-5
allele num: 110292
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.792C>A
  hgvsp: ENST00000417240.2:c.792C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2355C>A
  hgvsp: ENST00000344297.5:c.2355C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.2976C>A
  hgvsp: ENST00000242839.4:c.2976C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2643C>A
  hgvsp: ENST00000400366.3:c.2643C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.196C>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1686C>A
  hgvsp: ENST00000400370.3:c.1686C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1911C>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2742C>A
  hgvsp: ENST00000448424.2:c.2742C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2077C>A
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9673
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34511
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5052
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4187
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro992Pro
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

13-52520505-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520505
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520505
    reference: chr 13
allele count: 5
allele frequency: 4.513450081242101e-5
allele num: 110780
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2642C>T
  hgvsp: ENSP00000383217.3:p.Pro881Leu
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2741C>T
  hgvsp: ENSP00000416738.2:p.Pro914Leu
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.791C>T
  hgvsp: ENSP00000390360.2:p.Pro264Leu
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1910C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2354C>T
  hgvsp: ENSP00000342559.5:p.Pro785Leu
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2078C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.2975C>T
  hgvsp: ENSP00000242839.4:p.Pro992Leu
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1685C>T
  hgvsp: ENSP00000383221.3:p.Pro562Leu
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.195C>T
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9800
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4844
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34650
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5416
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro992Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

13-52520507-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520507
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520507
    reference: chr 13
allele count: 6513
allele frequency: 5.802330553773787e-2
allele num: 112248
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2080G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2739G>A
  hgvsp: ENST00000448424.2:c.2739G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2640G>A
  hgvsp: ENST00000400366.3:c.2640G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2352G>A
  hgvsp: ENST00000344297.5:c.2352G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1908G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.789G>A
  hgvsp: ENST00000417240.2:c.789G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1683G>A
  hgvsp: ENST00000400370.3:c.1683G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.2973G>A
  hgvsp: ENST00000242839.4:c.2973G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.193G>A
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.25e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.25e1
  variant carriers: 167
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 3.75e1
  variant carriers: 711
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.75e1
  variant carriers: 243
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 118
genotype depth: GenotypeDepth
  all individuals: 2206
  bin: 1.25e1
  variant carriers: 171
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 1.75e1
  variant carriers: 455
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.75e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.75e1
  variant carriers: 272
genotype depth: GenotypeDepth
  all individuals: 4024
  bin: 7.5e0
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 10210
  bin: 2.75e1
  variant carriers: 1055
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 120
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 3.25e1
  variant carriers: 1045
genotype depth: GenotypeDepth
  all individuals: 32060
  bin: 2.25e1
  variant carriers: 926
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 4.25e1
  variant carriers: 411
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.75e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.25e1
  variant carriers: 110
genotype quality: GenotypeQuality
  all individuals: 4482
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 4.75e1
  variant carriers: 13
hgvs: p.Thr991Thr
num of homozygotes: 224
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

13-52520508-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520508
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520508
    reference: chr 13
allele count: 143
allele frequency: 1.260845030683502e-3
allele num: 113416
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1907C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1682C>T
  hgvsp: ENSP00000383221.3:p.Thr561Met
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2738C>T
  hgvsp: ENSP00000416738.2:p.Thr913Met
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  clinical significance: likely_pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.2972C>T
  hgvsp: ENSP00000242839.4:p.Thr991Met
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2081C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2639C>T
  hgvsp: ENSP00000383217.3:p.Thr880Met
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.192C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.788C>T
  hgvsp: ENSP00000390360.2:p.Thr263Met
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: likely_pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2351C>T
  hgvsp: ENSP00000342559.5:p.Thr784Met
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1932
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3775
  bin: 3.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32935
  bin: 2.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11688
  bin: 2.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 1468
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr991Met
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/13-52520513-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520513
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520513
    reference: chr 13
allele count: 1
allele frequency: 8.663409224798143e-6
allele num: 115428
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1902G>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.2967G>T
  hgvsp: ENST00000242839.4:c.2967G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2733G>T
  hgvsp: ENST00000448424.2:c.2733G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1677G>T
  hgvsp: ENST00000400370.3:c.1677G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.783G>T
  hgvsp: ENST00000417240.2:c.783G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2634G>T
  hgvsp: ENST00000400366.3:c.2634G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2346G>T
  hgvsp: ENST00000344297.5:c.2346G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.187G>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2086G>T
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33717
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2940
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1385
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu989Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/13-52520516-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520516
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520516
    reference: chr 13
allele count: 1
allele frequency: 8.604667171473808e-6
allele num: 116216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2631G>T
  hgvsp: ENST00000400366.3:c.2631G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.780G>T
  hgvsp: ENST00000417240.2:c.780G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2730G>T
  hgvsp: ENST00000448424.2:c.2730G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1899G>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2343G>T
  hgvsp: ENST00000344297.5:c.2343G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.184G>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2089G>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.2964G>T
  hgvsp: ENST00000242839.4:c.2964G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1674G>T
  hgvsp: ENST00000400370.3:c.1674G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33953
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2508
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40973
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly988Gly
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

13-52520525-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520525
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520525
    reference: chr 13
allele count: 71
allele frequency: 6.014706380671614e-4
allele num: 118044
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2721C>T
  hgvsp: ENST00000448424.2:c.2721C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2334C>T
  hgvsp: ENST00000344297.5:c.2334C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.771C>T
  hgvsp: ENST00000417240.2:c.771C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.2955C>T
  hgvsp: ENST00000242839.4:c.2955C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1665C>T
  hgvsp: ENST00000400370.3:c.1665C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2098C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2622C>T
  hgvsp: ENST00000400366.3:c.2622C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1890C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.175C>T
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13809
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 34752
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42733
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Cys985Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

13-52520536-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520536
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520536
    reference: chr 13
allele count: 1
allele frequency: 8.395882659143956e-6
allele num: 119106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2611G>A
  hgvsp: ENSP00000383217.3:p.Ala871Thr
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.2944G>A
  hgvsp: ENSP00000242839.4:p.Ala982Thr
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.164G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1879G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2710G>A
  hgvsp: ENSP00000416738.2:p.Ala904Thr
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.760G>A
  hgvsp: ENSP00000390360.2:p.Ala254Thr
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1654G>A
  hgvsp: ENSP00000383221.3:p.Ala552Thr
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2323G>A
  hgvsp: ENSP00000342559.5:p.Ala775Thr
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2109G>A
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala982Thr
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/13-52520542-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520542
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520542
    reference: chr 13
allele count: 1
allele frequency: 8.37436773523599e-6
allele num: 119412
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1873T>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.754T>G
  hgvsp: ENSP00000390360.2:p.Cys252Gly
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1648T>G
  hgvsp: ENSP00000383221.3:p.Cys550Gly
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2605T>G
  hgvsp: ENSP00000383217.3:p.Cys869Gly
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2317T>G
  hgvsp: ENSP00000342559.5:p.Cys773Gly
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.2938T>G
  hgvsp: ENSP00000242839.4:p.Cys980Gly
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2704T>G
  hgvsp: ENSP00000416738.2:p.Cys902Gly
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.158T>G
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2115T>G
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4395
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Cys980Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/13-52520549-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520549
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520549
    reference: chr 13
allele count: 2
allele frequency: 1.672520488375983e-5
allele num: 119580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2598G>T
  hgvsp: ENST00000400366.3:c.2598G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2697G>T
  hgvsp: ENST00000448424.2:c.2697G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.151G>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2122G>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.2931G>T
  hgvsp: ENST00000242839.4:c.2931G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.747G>T
  hgvsp: ENST00000417240.2:c.747G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2310G>T
  hgvsp: ENST00000344297.5:c.2310G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1641G>T
  hgvsp: ENST00000400370.3:c.1641G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1866G>T
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr977Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

13-52520549-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520549
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520549
    reference: chr 13
allele count: 1
allele frequency: 8.362602441879913e-6
allele num: 119580
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2310G>A
  hgvsp: ENST00000344297.5:c.2310G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1866G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.151G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.747G>A
  hgvsp: ENST00000417240.2:c.747G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1641G>A
  hgvsp: ENST00000400370.3:c.1641G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2697G>A
  hgvsp: ENST00000448424.2:c.2697G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2122G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.2931G>A
  hgvsp: ENST00000242839.4:c.2931G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2598G>A
  hgvsp: ENST00000400366.3:c.2598G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr977Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

13-52520550-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520550
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520550
    reference: chr 13
allele count: 10
allele frequency: 8.357849692431132e-5
allele num: 119648
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1640C>T
  hgvsp: ENSP00000383221.3:p.Thr547Met
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2597C>T
  hgvsp: ENSP00000383217.3:p.Thr866Met
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.746C>T
  hgvsp: ENSP00000390360.2:p.Thr249Met
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.2930C>T
  hgvsp: ENSP00000242839.4:p.Thr977Met
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2696C>T
  hgvsp: ENSP00000416738.2:p.Thr899Met
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2309C>T
  hgvsp: ENSP00000342559.5:p.Thr770Met
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1865C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.150C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2123C>T
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4232
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14872
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr977Met
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ

13-52520556-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520556
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520556
    reference: chr 13
allele count: 1
allele frequency: 8.345434212942099e-6
allele num: 119826
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2303C>A
  hgvsp: ENSP00000342559.5:p.Ser768Tyr
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1859C>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.144C>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1634C>A
  hgvsp: ENSP00000383221.3:p.Ser545Tyr
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2129C>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2690C>A
  hgvsp: ENSP00000416738.2:p.Ser897Tyr
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.740C>A
  hgvsp: ENSP00000390360.2:p.Ser247Tyr
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2591C>A
  hgvsp: ENSP00000383217.3:p.Ser864Tyr
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.2924C>A
  hgvsp: ENSP00000242839.4:p.Ser975Tyr
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser975Tyr
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: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

13-52520558-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520558
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520558
    reference: chr 13
allele count: 1
allele frequency: 8.34278849362611e-6
allele num: 119864
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2301G>A
  hgvsp: ENST00000344297.5:c.2301G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2589G>A
  hgvsp: ENST00000400366.3:c.2589G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1857G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2688G>A
  hgvsp: ENST00000448424.2:c.2688G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.2922G>A
  hgvsp: ENST00000242839.4:c.2922G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.738G>A
  hgvsp: ENST00000417240.2:c.738G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.142G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2131G>A
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1632G>A
  hgvsp: ENST00000400370.3:c.1632G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35007
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr974Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

13-52520559-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 52520559
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 52520559
    reference: chr 13
allele count: 20
allele frequency: 1.667917604870319e-4
allele num: 119910
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000393343
  ensembl transcript: ENST00000418097
  gene symbol: ATP7B
  hgvsc: ENST00000418097.2:c.2866-2132C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000390360
  ensembl transcript: ENST00000417240
  gene symbol: ATP7B
  hgvsc: ENST00000417240.2:c.737C>T
  hgvsp: ENSP00000390360.2:p.Thr246Met
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000242839
  ensembl transcript: ENST00000242839
  gene symbol: ATP7B
  hgvsc: ENST00000242839.4:c.2921C>T
  hgvsp: ENSP00000242839.4:p.Thr974Met
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000416738
  ensembl transcript: ENST00000448424
  gene symbol: ATP7B
  hgvsc: ENST00000448424.2:c.2687C>T
  hgvsp: ENSP00000416738.2:p.Thr896Met
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383221
  ensembl transcript: ENST00000400370
  gene symbol: ATP7B
  hgvsc: ENST00000400370.3:c.1631C>T
  hgvsp: ENSP00000383221.3:p.Thr544Met
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000466629
  gene symbol: ATP7B
  hgvsc: ENST00000466629.1:n.141C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000342559
  ensembl transcript: ENST00000344297
  gene symbol: ATP7B
  hgvsc: ENST00000344297.5:c.2300C>T
  hgvsp: ENSP00000342559.5:p.Thr767Met
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000123191
  ensembl transcript: ENST00000482841
  gene symbol: ATP7B
  hgvsc: ENST00000482841.1:n.1856C>T
  variant of: http://identifiers.org/hgnc/870
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000123191
  ensembl protein: ENSP00000383217
  ensembl transcript: ENST00000400366
  gene symbol: ATP7B
  hgvsc: ENST00000400366.3:c.2588C>T
  hgvsp: ENSP00000383217.3:p.Thr863Met
  variant of: http://identifiers.org/hgnc/870
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 2
hgvs: p.Thr974Met
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1250
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2163
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42080
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 560
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2005
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6902
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1586
bin: 9.75e1
variant carriers: 14

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9350
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.216101179618144e-4
allele num: 16446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.226805704646527e-4
allele num: 65210
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.676174888940846e-4
allele num: 8554
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.572909e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.41e-1

QD
type: SiteQuality
SIO_000300: 1.3e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.36e0

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1912
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6870
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1246
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42019
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1994
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1591
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 557
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 9
allele frequency: 9.627727856225931e-4
allele num: 9348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.673890355454601e-5
allele num: 65156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

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

South Asian
type: Population
allele count: 6
allele frequency: 3.649191095973726e-4
allele num: 16442
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.572976e6

MQRankSum
type: SiteQuality
SIO_000300: 1.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.100000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.257e1

VQSLOD
type: SiteQuality
SIO_000300: 3.83e0

FS
type: SiteQuality
SIO_000300: 1.765e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.91e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 556
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1992
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6874
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 662
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 42129
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2157
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534636751480924e-5
allele num: 65162
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9354
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.571547e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.807e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.037e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.593e0

QD
type: SiteQuality
SIO_000300: 8.25e0

GenotypeQuality
all individuals: 1983
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1234
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6850
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 660
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2138
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41859
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1683
bin: 9.75e1
variant carriers: 136

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 133
allele frequency: 1.429800043001505e-2
allele num: 9302
num of homozygotes: 3

Latino
type: Population
allele count: 6
allele frequency: 5.225570458108344e-4
allele num: 11482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6384
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65088
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.216841080554879e-4
allele num: 16436
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.302e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.06e-2

FS
type: SiteQuality
SIO_000300: 5.24e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

DP
type: SiteQuality
SIO_000300: 1.571401e6

VQSLOD
type: SiteQuality
SIO_000300: 4.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.15e-1

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2123
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6830
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2135
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42060
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1559
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 88
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1966
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 657
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.079291762894534e-5
allele num: 64950
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9246
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.127e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.656e0

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.565421e6

GenotypeQuality
all individuals: 50
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6770
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2119
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 653
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1555
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 121
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1933
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2223
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41902
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6342
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543305142292734e-5
allele num: 64796
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.54e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

FS
type: SiteQuality
SIO_000300: 1.472e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.06e0

QD
type: SiteQuality
SIO_000300: 7.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.62e-1

DP
type: SiteQuality
SIO_000300: 1.562385e6

VQSLOD
type: SiteQuality
SIO_000300: -1.927e-1

GenotypeQuality
all individuals: 109
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6308
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.54813140539369e-5
allele num: 64594
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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ReadPosRankSum
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DP
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MQ
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VQSLOD
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BaseQRankSum
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FS
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MQRankSum
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SIO_000300: 1.2e-2

InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
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SIO_000300: 1.04e0

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

Latino
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allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 11
allele frequency: 1.723057644110276e-4
allele num: 63840
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -7.17e-1

ReadPosRankSum
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MQRankSum
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FS
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QD
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MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.5e-3

DP
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ClippingRankSum
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SIO_000300: -2.86e-1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6218
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 1
allele frequency: 6.145526057030482e-5
allele num: 16272
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63696
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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QD
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ReadPosRankSum
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MQRankSum
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VQSLOD
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MQ
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FS
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BaseQRankSum
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SIO_000300: 2.11e0

ClippingRankSum
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SIO_000300: -1.849e0

DP
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SIO_000300: 1.529078e6

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.153181560194236e-5
allele num: 63428
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6174
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11332
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8468
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.33e0

MQRankSum
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SIO_000300: 2.43e-1

InbreedingCoeff
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: 2.48e0

MQ
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QD
type: SiteQuality
SIO_000300: 1.696e1

DP
type: SiteQuality
SIO_000300: 1.516312e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.7e-1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8678
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63336
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11312
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6156
num of homozygotes: 0

South Asian
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allele frequency: 6.167509559639817e-5
allele num: 16214
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.45e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
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MQ
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MQRankSum
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

African
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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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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 (Non-Finnish)
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allele num: 62630
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European (Finnish)
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QD
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InbreedingCoeff
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DP
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FS
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ClippingRankSum
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MQ
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BaseQRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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African
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South Asian
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European (Non-Finnish)
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European (Finnish)
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FS
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VQSLOD
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QD
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MQRankSum
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DP
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BaseQRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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South Asian
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European (Finnish)
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African
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Latino
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European (Non-Finnish)
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FS
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MQ
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DP
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VQSLOD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11058
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.618908855431439e-5
allele num: 61770
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8268
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5944
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.78e-1

QD
type: SiteQuality
SIO_000300: 1.526e1

MQ
type: SiteQuality
SIO_000300: 5.79e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.65e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e-1

DP
type: SiteQuality
SIO_000300: 1.318391e6

VQSLOD
type: SiteQuality
SIO_000300: -1.475e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.027e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.236245954692556e-5
allele num: 61800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5938
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11062
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8270
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16020
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.71e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

FS
type: SiteQuality
SIO_000300: 1.472e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.84e0

DP
type: SiteQuality
SIO_000300: 1.305822e6

QD
type: SiteQuality
SIO_000300: 1.299e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.86e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7952
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5696
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8002
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.660908849322349e-5
allele num: 60208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10744
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15782
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

DP
type: SiteQuality
SIO_000300: 1.198083e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.698e0

QD
type: SiteQuality
SIO_000300: 1.479e1

MQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

FS
type: SiteQuality
SIO_000300: 1.112e0

VQSLOD
type: SiteQuality
SIO_000300: 5.11e-1

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59844
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10660
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15744
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5614
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7852
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.262307498106539e-4
allele num: 7922
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.289e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.28e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.103e0

QD
type: SiteQuality
SIO_000300: 2.704e1

DP
type: SiteQuality
SIO_000300: 1.193642e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.706e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.62e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15664
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.689874273354063e-5
allele num: 59176
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7852
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7752
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10542
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5574
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.76e-1

QD
type: SiteQuality
SIO_000300: 1.051e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.245e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.37e0

DP
type: SiteQuality
SIO_000300: 1.192166e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.592e0

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 510
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.775549188156638e-4
allele num: 2094
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7960
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9054
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.85e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.57927e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.402e0

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

African
type: Population
allele count: 1
allele frequency: 4.748338081671415e-4
allele num: 2106
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 9082
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
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East Asian
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7960
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
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SIO_000300: 4.48e0

VQSLOD
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SIO_000300: -1.134e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.49e-1

FS
type: SiteQuality
SIO_000300: 5.161e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.73e-2

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 518
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

South Asian
type: Population
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allele frequency: 6.279829188646069e-4
allele num: 7962
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 9166
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 118
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.706e0

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.070893124866138e-4
allele num: 9338
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

African
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

FS
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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DP
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2318
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 944
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8100
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 5.52906e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.28e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.998e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 5.763e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.56e-1

FS
type: SiteQuality
SIO_000300: 2.319e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

QD
type: SiteQuality
SIO_000300: 7.08e0

GenotypeQuality
all individuals: 2873
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 9.803921568627451e-5
allele num: 10200
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2318
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 944
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8100
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.319e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

DP
type: SiteQuality
SIO_000300: 5.52906e5

BaseQRankSum
type: SiteQuality
SIO_000300: -9.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.28e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 5.763e1

VQSLOD
type: SiteQuality
SIO_000300: -1.998e0

QD
type: SiteQuality
SIO_000300: 7.08e0

GenotypeQuality
all individuals: 1899
bin: 1.75e1
variant carriers: 5

GenotypeQuality
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bin: 6.25e1
variant carriers: 4

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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GenotypeQuality
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variant carriers: 147

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 1.25e1
variant carriers: 6

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 11

GenotypeQuality
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bin: 3.25e1
variant carriers: 5

GenotypeQuality
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bin: 6.75e1
variant carriers: 7

GenotypeQuality
all individuals: 276
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.838235294117647e-4
allele num: 10880
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.222792858889704e-4
allele num: 8178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1040
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 4.518072289156626e-3
allele num: 664
num of homozygotes: 0

African
type: Population
allele count: 134
allele frequency: 5.28391167192429e-2
allele num: 2536
num of homozygotes: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 276
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.01e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 5.81949e5

QD
type: SiteQuality
SIO_000300: 1.405e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.44e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 518
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12210
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2706
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8304
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1238
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.619e-1

FS
type: SiteQuality
SIO_000300: 2.596e0

QD
type: SiteQuality
SIO_000300: 8.44e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.79e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.20339e5

GenotypeQuality
all individuals: 912
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1347
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1597
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GenotypeQuality
all individuals: 8614
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 526
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GenotypeQuality
all individuals: 158
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1230
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 676
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1720
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.472491909385113e-5
allele num: 15450
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8744
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 1.575299306868305e-3
allele num: 3174
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.012e0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.96e-2

QD
type: SiteQuality
SIO_000300: 1.198e1

MQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

FS
type: SiteQuality
SIO_000300: 1.063e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

DP
type: SiteQuality
SIO_000300: 6.82352e5

GenotypeQuality
all individuals: 1465
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 750
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variant carriers: 0

GenotypeQuality
all individuals: 120
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1694
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variant carriers: 0

GenotypeQuality
all individuals: 423
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1334
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.239618197595141e-4
allele num: 16134
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1820
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.133272892112421e-4
allele num: 8824
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.90841e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

QD
type: SiteQuality
SIO_000300: 1.458e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.83e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

MQRankSum
type: SiteQuality
SIO_000300: -1.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e-1

FS
type: SiteQuality
SIO_000300: 8.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 730
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GenotypeQuality
all individuals: 541
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.806526535826269e-5
allele num: 17222
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1998
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3416
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8982
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.282e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.461e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.61e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.9e-2

DP
type: SiteQuality
SIO_000300: 7.0178e5

QD
type: SiteQuality
SIO_000300: 1.249e1

GenotypeQuality
all individuals: 1051
bin: 6.75e1
variant carriers: 36

GenotypeQuality
all individuals: 274
bin: 4.25e1
variant carriers: 9

GenotypeQuality
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bin: 4.75e1
variant carriers: 21

GenotypeQuality
all individuals: 4880
bin: 9.75e1
variant carriers: 2094

GenotypeQuality
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variant carriers: 23

GenotypeQuality
all individuals: 734
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variant carriers: 111

GenotypeQuality
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variant carriers: 59

GenotypeQuality
all individuals: 32309
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variant carriers: 28

GenotypeQuality
all individuals: 867
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variant carriers: 9

GenotypeQuality
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variant carriers: 31

GenotypeQuality
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variant carriers: 32

GenotypeQuality
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variant carriers: 18

GenotypeQuality
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GenotypeQuality
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variant carriers: 43

GenotypeQuality
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variant carriers: 48

GenotypeQuality
all individuals: 1728
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variant carriers: 22

GenotypeQuality
all individuals: 835
bin: 3.75e1
variant carriers: 20

GenotypeQuality
all individuals: 483
bin: 8.75e1
variant carriers: 81

Other
type: Population
allele count: 18
allele frequency: 5.882352941176471e-2
allele num: 306
num of homozygotes: 1

African
type: Population
allele count: 40
allele frequency: 1.089324618736384e-2
allele num: 3672
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.460303300624443e-4
allele num: 2242
num of homozygotes: 0

South Asian
type: Population
allele count: 143
allele frequency: 1.533676533676534e-2
allele num: 9324
num of homozygotes: 5

European (Finnish)
type: Population
allele count: 93
allele frequency: 8.595194085027727e-2
allele num: 1082
num of homozygotes: 1

Latino
type: Population
allele count: 100
allele frequency: 5.524861878453038e-2
allele num: 1810
num of homozygotes: 4

European (Non-Finnish)
type: Population
allele count: 1762
allele frequency: 8.456517565751584e-2
allele num: 20836
num of homozygotes: 42

MQRankSum
type: SiteQuality
SIO_000300: 1.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.452e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

FS
type: SiteQuality
SIO_000300: 6.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e-1

DP
type: SiteQuality
SIO_000300: 7.4644e5

GenotypeQuality
all individuals: 2257
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33178
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3049
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GenotypeQuality
all individuals: 5236
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GenotypeQuality
all individuals: 636
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GenotypeQuality
all individuals: 255
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GenotypeQuality
all individuals: 1771
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 742
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1126
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.625774817281895e-5
allele num: 21618
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1962
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.262e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.29e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.78e-1

QD
type: SiteQuality
SIO_000300: 1.511e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.120000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

FS
type: SiteQuality
SIO_000300: 2.732e0

DP
type: SiteQuality
SIO_000300: 7.49292e5

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2762
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4024
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 1.51285930408472e-3
allele num: 1322
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.19674332717811e-5
allele num: 23828
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 7.81779e5

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.483e0

MQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

QD
type: SiteQuality
SIO_000300: 7.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.54e-1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 3.982477100756671e-5
allele num: 25110
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 364
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1522
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2976
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10006
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4188
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.454e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.969e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.900000000000001e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.92566e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.149e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e0

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

GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26498
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2884
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.800078400627205e-5
allele num: 10204
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3184
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

DP
type: SiteQuality
SIO_000300: 8.08236e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.23e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

VQSLOD
type: SiteQuality
SIO_000300: 8.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28992
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 5.920663114268798e-4
allele num: 3378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 400
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1838
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4722
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.41457e5

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: -1.626e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.899e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e-1

QD
type: SiteQuality
SIO_000300: 8.98e0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

East Asian
type: Population
allele count: 1
allele frequency: 2.583979328165374e-4
allele num: 3870
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 434
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.970055161544523e-4
allele num: 5076
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10944
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2134
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.130478337089907e-5
allele num: 31944
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.281e1

BaseQRankSum
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SIO_000300: -1.134e0

FS
type: SiteQuality
SIO_000300: 2.1524e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.345e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

DP
type: SiteQuality
SIO_000300: 8.77489e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 4

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4060
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 1.200912693647172e-4
allele num: 33308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2238
num of homozygotes: 0

African
type: Population
allele count: 110
allele frequency: 2.064564564564565e-2
allele num: 5328
num of homozygotes: 2

South Asian
type: Population
allele count: 2
allele frequency: 1.797268152408339e-4
allele num: 11128
num of homozygotes: 0

Latino
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allele count: 7
allele frequency: 1.673040152963671e-3
allele num: 4184
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

DP
type: SiteQuality
SIO_000300: 9.00942e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.88e0

QD
type: SiteQuality
SIO_000300: 1.288e1

GenotypeQuality
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variant carriers: 43

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 69

GenotypeQuality
all individuals: 812
bin: 4.75e1
variant carriers: 53

European (Non-Finnish)
type: Population
allele count: 3575
allele frequency: 9.007306626354246e-2
allele num: 39690
num of homozygotes: 91

Latino
type: Population
allele count: 206
allele frequency: 4.071146245059289e-2
allele num: 5060
num of homozygotes: 1

African
type: Population
allele count: 69
allele frequency: 1.198749131341209e-2
allele num: 5756
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 444
allele frequency: 1.480987324883256e-1
allele num: 2998
num of homozygotes: 16

Other
type: Population
allele count: 47
allele frequency: 9.073359073359073e-2
allele num: 518
num of homozygotes: 1

East Asian
type: Population
allele count: 86
allele frequency: 1.85105467068446e-2
allele num: 4646
num of homozygotes: 1

South Asian
type: Population
allele count: 1737
allele frequency: 1.40238979492976e-1
allele num: 12386
num of homozygotes: 101

DP
type: SiteQuality
SIO_000300: 1.017394e6

VQSLOD
type: SiteQuality
SIO_000300: 6.19e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.431e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

GenotypeQuality
all individuals: 1911
bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 1.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3228
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4910
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41456
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5416
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 5.537098560354374e-4
allele num: 12642
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.68e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.91e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.39e-1

QD
type: SiteQuality
SIO_000300: 1.189e1

DP
type: SiteQuality
SIO_000300: 1.033149e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

GenotypeQuality
all individuals: 828
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 8.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12668
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5970
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.816200508536142e-4
allele num: 5506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4954
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.391657897254377e-5
allele num: 41812
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3256
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

FS
type: SiteQuality
SIO_000300: 1.0023e1

DP
type: SiteQuality
SIO_000300: 1.040941e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.829e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

QD
type: SiteQuality
SIO_000300: 1.183e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5112
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 5.179558011049724e-4
allele num: 5792
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3352
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 7.807620237351655e-5
allele num: 12808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 2.318894351173361e-4
allele num: 43124
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

DP
type: SiteQuality
SIO_000300: 1.059825e6

QD
type: SiteQuality
SIO_000300: 1.263e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

FS
type: SiteQuality
SIO_000300: 4.781e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6012
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 1.40805406927626e-4
allele num: 7102
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48390
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.05e-1

DP
type: SiteQuality
SIO_000300: 1.151042e6

QD
type: SiteQuality
SIO_000300: 1.378e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.441e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.102e0

MQRankSum
type: SiteQuality
SIO_000300: -3.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

GenotypeQuality
all individuals: 396
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1006
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variant carriers: 0

GenotypeQuality
all individuals: 2824
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7102
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6758
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6012
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.468259895444362e-5
allele num: 13390
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.239925604463732e-4
allele num: 48390
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.102e0

MQRankSum
type: SiteQuality
SIO_000300: -3.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.441e0

DP
type: SiteQuality
SIO_000300: 1.151042e6

QD
type: SiteQuality
SIO_000300: 1.378e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

GenotypeQuality
all individuals: 808
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6240
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.439677512237259e-4
allele num: 6946
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3982
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49654
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.700414446417999e-4
allele num: 13512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7414
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.335e1

FS
type: SiteQuality
SIO_000300: 1.355e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

DP
type: SiteQuality
SIO_000300: 1.171943e6

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.041809320497845e-5
allele num: 49654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3982
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6240
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7414
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6946
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.355e0

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.44e-1

QD
type: SiteQuality
SIO_000300: 1.335e1

DP
type: SiteQuality
SIO_000300: 1.171943e6

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 10

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 686
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.89623786407767e-4
allele num: 52736
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13882
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7338
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4308
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8130
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6770
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-1

QD
type: SiteQuality
SIO_000300: 1.228e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.539e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.23e-1

DP
type: SiteQuality
SIO_000300: 1.224733e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

GenotypeQuality
all individuals: 143
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 113
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GenotypeQuality
all individuals: 727
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 276
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GenotypeQuality
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GenotypeQuality
all individuals: 1903
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GenotypeQuality
all individuals: 585
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GenotypeQuality
all individuals: 3748
bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4778
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14332
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 56382
num of homozygotes: 0

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

QD
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SIO_000300: 8.279999999999999e0

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.293054e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.676e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: -3.962e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.759633996128805e-5
allele num: 56830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9112
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7874
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7380
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4856
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14388
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.915e1

InbreedingCoeff
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FS
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DP
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MQRankSum
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ClippingRankSum
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QD
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.131e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.088e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.484806244772791e-5
allele num: 57392
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4900
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14466
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.754e0

MQRankSum
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SIO_000300: 1.29e0

MQ
type: SiteQuality
SIO_000300: 5.82e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.98e-1

InbreedingCoeff
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SIO_000300: -1.1e-3

BaseQRankSum
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SIO_000300: -2.254e0

VQSLOD
type: SiteQuality
SIO_000300: -1.622e0

DP
type: SiteQuality
SIO_000300: 1.313431e6

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

South Asian
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allele count: 2
allele frequency: 1.377790024800221e-4
allele num: 14516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4946
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57748
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7538
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7976
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.124e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e0

QD
type: SiteQuality
SIO_000300: 1.265e1

DP
type: SiteQuality
SIO_000300: 1.321223e6

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.672352665730149e-5
allele num: 59796
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7838
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9976
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14776
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

VQSLOD
type: SiteQuality
SIO_000300: 2.57e0

QD
type: SiteQuality
SIO_000300: 1.177e1

FS
type: SiteQuality
SIO_000300: 1.955e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

DP
type: SiteQuality
SIO_000300: 1.369684e6

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 4

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.672352665730149e-5
allele num: 59796
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.002405773857257e-4
allele num: 9976
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7838
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.353546291283162e-4
allele num: 14776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5278
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.955e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.7e-2

QD
type: SiteQuality
SIO_000300: 1.177e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

DP
type: SiteQuality
SIO_000300: 1.369684e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 13

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.807070574319884e-4
allele num: 60872
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5408
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.765625000000001e-5
allele num: 10240
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.688068485821294e-5
allele num: 14952
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.598e0

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.392647e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.619009796134498e-5
allele num: 15108
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61662
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5522
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.40982e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 6

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.971405877680699e-4
allele num: 15108
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5522
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8094
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8678
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61662
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.876e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

FS
type: SiteQuality
SIO_000300: 6.283e0

DP
type: SiteQuality
SIO_000300: 1.40982e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

QD
type: SiteQuality
SIO_000300: 1.214e1

VQSLOD
type: SiteQuality
SIO_000300: 8.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.83e-1

GenotypeQuality
all individuals: 1022
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 5.75e1
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GenotypeQuality
all individuals: 3775
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 693
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.5e0
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GenotypeQuality
all individuals: 327
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4221
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1280
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37516
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.615195761726321e-5
allele num: 61912
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8734
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15164
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.923682914820286e-4
allele num: 8124
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.15e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

FS
type: SiteQuality
SIO_000300: 3.167e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.596e0

QD
type: SiteQuality
SIO_000300: 1.231e1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.414816e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
all individuals: 421
bin: 8.75e1
variant carriers: 15

GenotypeQuality
all individuals: 61
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 87
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 549
bin: 5.75e1
variant carriers: 6

GenotypeQuality
all individuals: 34291
bin: 6.25e1
variant carriers: 18

GenotypeQuality
all individuals: 855
bin: 8.25e1
variant carriers: 30

GenotypeQuality
all individuals: 79
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 9443
bin: 9.75e1
variant carriers: 6124

GenotypeQuality
all individuals: 329
bin: 4.25e1
variant carriers: 4

GenotypeQuality
all individuals: 645
bin: 3.75e1
variant carriers: 6

GenotypeQuality
all individuals: 597
bin: 9.25e1
variant carriers: 21

GenotypeQuality
all individuals: 883
bin: 3.25e1
variant carriers: 5

GenotypeQuality
all individuals: 140
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 553
bin: 5.25e1
variant carriers: 12

GenotypeQuality
all individuals: 750
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1068
bin: 7.25e1
variant carriers: 14

GenotypeQuality
all individuals: 3578
bin: 6.75e1
variant carriers: 13

GenotypeQuality
all individuals: 1191
bin: 7.75e1
variant carriers: 26

South Asian
type: Population
allele count: 987
allele frequency: 6.431643424996741e-2
allele num: 15346
num of homozygotes: 55

African
type: Population
allele count: 102
allele frequency: 1.158038147138965e-2
allele num: 8808
num of homozygotes: 0

Other
type: Population
allele count: 51
allele frequency: 6.234718826405868e-2
allele num: 818
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 4858
allele frequency: 7.733944662018022e-2
allele num: 62814
num of homozygotes: 158

East Asian
type: Population
allele count: 1
allele frequency: 1.223990208078335e-4
allele num: 8170
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 274
allele frequency: 4.815465729349736e-2
allele num: 5690
num of homozygotes: 5

Latino
type: Population
allele count: 240
allele frequency: 2.263723825693265e-2
allele num: 10602
num of homozygotes: 4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.06e0

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-2

QD
type: SiteQuality
SIO_000300: 1.389e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.57e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.513e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.525636e6

GenotypeQuality
all individuals: 4442
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 476
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variant carriers: 0

GenotypeQuality
all individuals: 62
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variant carriers: 0

GenotypeQuality
all individuals: 599
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variant carriers: 0

GenotypeQuality
all individuals: 691
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variant carriers: 0

GenotypeQuality
all individuals: 3955
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variant carriers: 0

GenotypeQuality
all individuals: 637
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variant carriers: 0

GenotypeQuality
all individuals: 362
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variant carriers: 0

GenotypeQuality
all individuals: 4511
bin: 9.75e1
variant carriers: 143

GenotypeQuality
all individuals: 521
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variant carriers: 0

GenotypeQuality
all individuals: 837
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variant carriers: 0

GenotypeQuality
all individuals: 55
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variant carriers: 0

GenotypeQuality
all individuals: 38379
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variant carriers: 0

GenotypeQuality
all individuals: 623
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1024
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.21153380179307e-4
allele num: 8254
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10736
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 131
allele frequency: 2.064097311946554e-3
allele num: 63466
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.21654501216545e-3
allele num: 822
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 7.851054284432481e-4
allele num: 8916
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.469812630117973e-4
allele num: 5764
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.469142191745374e-5
allele num: 15458
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-1

DP
type: SiteQuality
SIO_000300: 1.504375e6

QD
type: SiteQuality
SIO_000300: 1.269e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.21e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.61e0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 425
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variant carriers: 0

GenotypeQuality
all individuals: 488
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variant carriers: 1

GenotypeQuality
all individuals: 264
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
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variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40282
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variant carriers: 0

GenotypeQuality
all individuals: 40
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variant carriers: 0

GenotypeQuality
all individuals: 459
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variant carriers: 0

GenotypeQuality
all individuals: 600
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variant carriers: 0

GenotypeQuality
all individuals: 4673
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variant carriers: 0

GenotypeQuality
all individuals: 4378
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variant carriers: 0

GenotypeQuality
all individuals: 1470
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15708
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9118
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5922
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.551445947623185e-5
allele num: 64456
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10964
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

FS
type: SiteQuality
SIO_000300: 8.766e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.768e0

MQRankSum
type: SiteQuality
SIO_000300: -1.68e-1

QD
type: SiteQuality
SIO_000300: 6.06e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.64e0

DP
type: SiteQuality
SIO_000300: 1.528318e6

GenotypeQuality
all individuals: 116
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1452
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variant carriers: 0

GenotypeQuality
all individuals: 248
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variant carriers: 0

GenotypeQuality
all individuals: 395
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GenotypeQuality
all individuals: 630
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variant carriers: 0

GenotypeQuality
all individuals: 260
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variant carriers: 0

GenotypeQuality
all individuals: 527
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GenotypeQuality
all individuals: 1013
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 474
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variant carriers: 0

GenotypeQuality
all individuals: 401
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variant carriers: 0

GenotypeQuality
all individuals: 461
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GenotypeQuality
all individuals: 1367
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variant carriers: 0

GenotypeQuality
all individuals: 4708
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variant carriers: 0

GenotypeQuality
all individuals: 4376
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15792
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9230
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.542353013757789e-5
allele num: 64836
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5996
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11060
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.698e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.540963e6

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.04e0

QD
type: SiteQuality
SIO_000300: 1.159e1

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
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variant carriers: 0

GenotypeQuality
all individuals: 631
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GenotypeQuality
all individuals: 84
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GenotypeQuality
all individuals: 269
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GenotypeQuality
all individuals: 184
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GenotypeQuality
all individuals: 1533
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GenotypeQuality
all individuals: 1418
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GenotypeQuality
all individuals: 293
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GenotypeQuality
all individuals: 310
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GenotypeQuality
all individuals: 1007
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GenotypeQuality
all individuals: 4444
bin: 9.75e1
variant carriers: 71

GenotypeQuality
all individuals: 467
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GenotypeQuality
all individuals: 4900
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 5
allele frequency: 4.432624113475177e-4
allele num: 11280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
num of homozygotes: 0

African
type: Population
allele count: 65
allele frequency: 6.862331081081081e-3
allele num: 9472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523600572873815e-5
allele num: 65634
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16048
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e-1

FS
type: SiteQuality
SIO_000300: 1.269e0

VQSLOD
type: SiteQuality
SIO_000300: 4.08e0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-1

DP
type: SiteQuality
SIO_000300: 1.566689e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

QD
type: SiteQuality
SIO_000300: 1.258e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.172e0

GenotypeQuality
all individuals: 1439
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
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GenotypeQuality
all individuals: 4396
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GenotypeQuality
all individuals: 182
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GenotypeQuality
all individuals: 4973
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GenotypeQuality
all individuals: 213
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GenotypeQuality
all individuals: 170
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GenotypeQuality
all individuals: 947
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GenotypeQuality
all individuals: 285
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GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 13
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GenotypeQuality
all individuals: 183
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GenotypeQuality
all individuals: 1513
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GenotypeQuality
all individuals: 43686
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variant carriers: 0

GenotypeQuality
all individuals: 633
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GenotypeQuality
all individuals: 153
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16238
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66082
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6318
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.164144353899884e-4
allele num: 8590
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 1.582965e6

MQRankSum
type: SiteQuality
SIO_000300: 1.09e0

VQSLOD
type: SiteQuality
SIO_000300: 5.629999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.768e0

QD
type: SiteQuality
SIO_000300: 1.106e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.046e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

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

GenotypeQuality
all individuals: 149
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1444
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GenotypeQuality
all individuals: 1522
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GenotypeQuality
all individuals: 805
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GenotypeQuality
all individuals: 1021
bin: 8.25e1
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GenotypeQuality
all individuals: 202
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GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 62
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GenotypeQuality
all individuals: 136
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GenotypeQuality
all individuals: 44131
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GenotypeQuality
all individuals: 154
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GenotypeQuality
all individuals: 110
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GenotypeQuality
all individuals: 633
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GenotypeQuality
all individuals: 475
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variant carriers: 0

GenotypeQuality
all individuals: 5030
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.139489194499017e-5
allele num: 16288
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6366
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66218
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

FS
type: SiteQuality
SIO_000300: 1.047e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.462e0

VQSLOD
type: SiteQuality
SIO_000300: 9.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

DP
type: SiteQuality
SIO_000300: 1.586507e6

QD
type: SiteQuality
SIO_000300: 1.321e1

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4397
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 44045
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1509
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5012
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1444
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508614187007815e-5
allele num: 66286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16310
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162790697674419e-4
allele num: 8600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.219e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQ
type: SiteQuality
SIO_000300: 5.917e1

VQSLOD
type: SiteQuality
SIO_000300: -1.494e0

QD
type: SiteQuality
SIO_000300: 6.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-1

DP
type: SiteQuality
SIO_000300: 1.590732e6

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.27e-1

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1509
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44045
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5012
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4397
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 204
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1444
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9676
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.131207847946045e-5
allele num: 16310
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66286
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.917e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-1

FS
type: SiteQuality
SIO_000300: 6.219e0

DP
type: SiteQuality
SIO_000300: 1.590732e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.494e0

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

QD
type: SiteQuality
SIO_000300: 6.31e0

GenotypeQuality
all individuals: 109
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44230
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5023
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 76
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1507
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4406
bin: 9.75e1
variant carriers: 10

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.03327133705311e-4
allele num: 9678
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.225790634959549e-4
allele num: 16316
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.055456711196888e-4
allele num: 66322
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.591522e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.96e0

QD
type: SiteQuality
SIO_000300: 1.147e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.82e-1

FS
type: SiteQuality
SIO_000300: 1.807e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeQuality
all individuals: 99
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5057
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4396
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1015
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1520
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44568
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 577
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16346
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9704
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.161710037174721e-4
allele num: 8608
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66380
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.133e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.126e0

DP
type: SiteQuality
SIO_000300: 1.593842e6

QD
type: SiteQuality
SIO_000300: 1.236e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.506e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

VQSLOD
type: SiteQuality
SIO_000300: 2.41e-1

GenotypeQuality
all individuals: 95
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 101
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1453
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5052
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44619
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1516
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4396
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 80
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.029654036243822e-4
allele num: 9712
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.86e-1

DP
type: SiteQuality
SIO_000300: 1.594774e6

VQSLOD
type: SiteQuality
SIO_000300: -3.845e-1

FS
type: SiteQuality
SIO_000300: 2.296e0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.62e-1