http://identifiers.org/exac.variant/11-14486612-C-CACAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14486612
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14486616
    reference: chr 11
allele count: 2
allele frequency: 6.161429451632779e-4
allele num: 3246
alternate allele: CACAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2291-37_2291-36insTTGT
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2291-37_2291-36insTTGT
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 6159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10743
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9679
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24852
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6101
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1530
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 244
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/11-14486613-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14486613
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14486612
    reference: chr 11
allele count: 7
allele frequency: 9.620670698185816e-4
allele num: 7276
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2291-38delG
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2291-38delG
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11482
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6609
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10418
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9794
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 2882
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 19272
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2455
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 355
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genotype quality: GenotypeQuality
  all individuals: 14
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genotype quality: GenotypeQuality
  all individuals: 11
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genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 1
  allele frequency: 4.464285714285714e-3
  allele num: 224
  num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: AC
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/11-14486614-C-CACAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14486614
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14486618
    reference: chr 11
allele count: 3
allele frequency: 3.747189607794155e-4
allele num: 8006
alternate allele: CACAA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2291-39_2291-38insTTGT
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2291-39_2291-38insTTGT
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11523
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6414
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10917
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7760
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 2596
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 44
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 22460
  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 473
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 2
  allele frequency: 1.607717041800643e-3
  allele num: 1244
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

11-14486614-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14486614
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14486614
    reference: chr 11
allele count: 1
allele frequency: 1.249063202598052e-4
allele num: 8006
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2291-38G>C
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2291-38G>C
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 11523
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10917
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2596
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1791
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 7760
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 74
  num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

11-14486617-ACACACACACACACACACACACACACACACACACACACACT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14486617
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14486577
    reference: chr 11
allele count: 1
allele frequency: 3.445899379738111e-5
allele num: 29020
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5071
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4918
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4701
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8874
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 244
  num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: ACACACACACACACACACACACACACACACACACACACACT
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

11-14486620-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14486620
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14486620
    reference: chr 11
allele count: 1
allele frequency: 2.026999635140066e-5
allele num: 49334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2291-44G>A
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2291-44G>A
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 427
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3256
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

11-14486628-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14486628
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14486628
    reference: chr 11
allele count: 1
allele frequency: 1.27959053103007e-5
allele num: 78150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2291-52G>A
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2291-52G>A
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9650
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22972
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3816
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 478
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7348
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

11-14487779-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14487779
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14487779
    reference: chr 11
allele count: 7
allele frequency: 5.813374082317377e-5
allele num: 120412
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2290+49T>C
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2290+49T>C
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7311
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 8475
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 900
  num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

11-14487794-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14487794
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14487794
    reference: chr 11
allele count: 2
allele frequency: 1.659365458648613e-5
allele num: 120528
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2290+34C>T
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2290+34C>T
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26086
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 462
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5940
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2490
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3243
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8484
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33944
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8648
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

11-14487796-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14487796
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14487796
    reference: chr 11
allele count: 1
allele frequency: 8.297240337863626e-6
allele num: 120522
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2290+32G>A
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2290+32G>A
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26159
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5938
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33952
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3242
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8483
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15962
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD

11-14487797-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14487797
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14487797
    reference: chr 11
allele count: 1
allele frequency: 8.29242404139578e-6
allele num: 120592
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2290+31T>A
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2290+31T>A
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8762
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8500
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2171
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34215
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2490
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3250
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 808
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5937
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10400
  num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum

11-14487803-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14487803
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14487803
    reference: chr 11
allele count: 1
allele frequency: 8.285965232089886e-6
allele num: 120686
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2290+25A>G
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2290+25A>G
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9083
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2174
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 82
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8515
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5937
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8648
  num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

11-14487811-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14487811
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14487811
    reference: chr 11
allele count: 4
allele frequency: 3.309614429918914e-5
allele num: 120860
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2290+17T>C
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2290+17T>C
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9524
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genotype depth: GenotypeDepth
  all individuals: 260
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26471
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66550
  num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-14487814-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14487814
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14487814
    reference: chr 11
allele count: 1
allele frequency: 8.272119647938589e-6
allele num: 120888
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2290+14C>T
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2290+14C>T
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9597
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8573
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2496
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3252
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5933
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2171
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35377
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.50253929140247e-5
  allele num: 66554
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

11-14487824-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14487824
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14487824
    reference: chr 11
allele count: 4
allele frequency: 3.302946228035408e-5
allele num: 121104
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2290+4A>T
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2290+4A>T
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5932
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 35714
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 8617
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2176
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 8.75e1
  variant carriers: 0
hgvs: c.2290+4A>T
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16364
  num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

11-14487832-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14487832
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14487832
    reference: chr 11
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2286A>G
  hgvsp: ENST00000439561.2:c.2286A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2286A>G
  hgvsp: ENST00000249923.3:c.2286A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2497
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35948
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5928
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3256
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr762Thr
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11552
  num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff

11-14487847-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14487847
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14487847
    reference: chr 11
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2271A>G
  hgvsp: ENST00000249923.3:c.2271A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2271A>G
  hgvsp: ENST00000439561.2:c.2271A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 710
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2503
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5927
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr757Thr
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/11-14487851-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14487851
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14487851
    reference: chr 11
allele count: 2
allele frequency: 1.648559982854976e-5
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2267G>T
  hgvsp: ENSP00000397873.2:p.Cys756Phe
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2267G>T
  hgvsp: ENSP00000249923.3:p.Cys756Phe
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4019
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2503
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36099
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5928
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3257
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8648
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Cys756Phe
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

11-14487853-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14487853
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14487853
    reference: chr 11
allele count: 4
allele frequency: 3.296848213108268e-5
allele num: 121328
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2265T>C
  hgvsp: ENST00000249923.3:c.2265T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2265T>C
  hgvsp: ENST00000439561.2:c.2265T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9830
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5926
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 36112
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2505
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8648
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2173
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn755Asn
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11550
  num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

11-14487865-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14487865
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14487865
    reference: chr 11
allele count: 5
allele frequency: 4.120041530018623e-5
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2253T>C
  hgvsp: ENST00000249923.3:c.2253T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2253T>C
  hgvsp: ENST00000439561.2:c.2253T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26911
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36131
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3258
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5922
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8651
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp751Asp
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 4
  allele frequency: 5.995203836930456e-5
  allele num: 66720
  num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

11-14487871-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14487871
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14487871
    reference: chr 11
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2247C>T
  hgvsp: ENST00000439561.2:c.2247C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2247C>T
  hgvsp: ENST00000249923.3:c.2247C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3260
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5917
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36134
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8650
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr749Thr
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

11-14487873-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14487873
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14487873
    reference: chr 11
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2245A>G
  hgvsp: ENSP00000249923.3:p.Thr749Ala
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2245A>G
  hgvsp: ENSP00000397873.2:p.Thr749Ala
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5916
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8649
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36141
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2505
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3260
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr749Ala
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16508
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

11-14487902-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14487902
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14487902
    reference: chr 11
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2216T>C
  hgvsp: ENSP00000397873.2:p.Ile739Thr
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2216T>C
  hgvsp: ENSP00000249923.3:p.Ile739Thr
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: missense
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 2503
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8646
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36136
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 3255
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1199
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5915
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ile739Thr
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11540
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

11-14487908-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14487908
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14487908
    reference: chr 11
allele count: 2
allele frequency: 1.648288252649623e-5
allele num: 121338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2210A>G
  hgvsp: ENSP00000397873.2:p.Tyr737Cys
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2210A>G
  hgvsp: ENSP00000249923.3:p.Tyr737Cys
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26916
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36132
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3255
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2502
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genotype quality: GenotypeQuality
  all individuals: 813
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5913
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Tyr737Cys
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

11-14487911-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14487911
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14487911
    reference: chr 11
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2207A>G
  hgvsp: ENSP00000397873.2:p.Gln736Arg
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2207A>G
  hgvsp: ENSP00000249923.3:p.Gln736Arg
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3255
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 36126
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 2502
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5912
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8646
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln736Arg
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11536
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

11-14487912-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14487912
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14487912
    reference: chr 11
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2206C>A
  hgvsp: ENSP00000397873.2:p.Gln736Lys
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2206C>A
  hgvsp: ENSP00000249923.3:p.Gln736Lys
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3255
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8645
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36124
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5912
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln736Lys
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

11-14487913-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14487913
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14487913
    reference: chr 11
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2205C>T
  hgvsp: ENST00000249923.3:c.2205C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2205C>T
  hgvsp: ENST00000439561.2:c.2205C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26911
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8647
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36120
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3254
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5911
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asn735Asn
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16506
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ

11-14487916-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14487916
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14487916
    reference: chr 11
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2202C>G
  hgvsp: ENST00000439561.2:c.2202C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2202C>G
  hgvsp: ENST00000249923.3:c.2202C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13187
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9810
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36107
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3254
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8648
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2500
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5911
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val734Val
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11532
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

11-14487919-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14487919
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14487919
    reference: chr 11
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2199T>C
  hgvsp: ENST00000249923.3:c.2199T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2199T>C
  hgvsp: ENST00000439561.2:c.2199T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13186
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2169
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36102
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8644
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5910
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His733His
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66706
  num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

11-14487920-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14487920
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14487920
    reference: chr 11
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2198A>T
  hgvsp: ENSP00000249923.3:p.His733Leu
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2198A>T
  hgvsp: ENSP00000397873.2:p.His733Leu
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8643
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5910
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2168
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His733Leu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10402
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

11-14487920-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14487920
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14487920
    reference: chr 11
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2198A>G
  hgvsp: ENSP00000249923.3:p.His733Arg
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2198A>G
  hgvsp: ENSP00000397873.2:p.His733Arg
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26897
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5910
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8643
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2168
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His733Arg
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16506
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

11-14487924-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14487924
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14487924
    reference: chr 11
allele count: 2
allele frequency: 1.648777431534517e-5
allele num: 121302
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2194G>A
  hgvsp: ENSP00000249923.3:p.Val732Ile
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2194G>A
  hgvsp: ENSP00000397873.2:p.Val732Ile
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36097
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3252
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5908
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2167
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8641
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val732Ile
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

11-14487925-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14487925
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14487925
    reference: chr 11
allele count: 4
allele frequency: 3.297717979158422e-5
allele num: 121296
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2193C>T
  hgvsp: ENST00000249923.3:c.2193C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2193C>T
  hgvsp: ENST00000439561.2:c.2193C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4008
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 8642
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5906
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36081
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr731Tyr
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 904
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

11-14487937-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14487937
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14487937
    reference: chr 11
allele count: 16
allele frequency: 1.319870652676038e-4
allele num: 121224
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2181T>C
  hgvsp: ENST00000439561.2:c.2181T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2181T>C
  hgvsp: ENST00000249923.3:c.2181T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26875
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4002
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36014
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2499
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5907
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 8625
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr727Tyr
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10398
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/11-14487942-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14487942
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14487942
    reference: chr 11
allele count: 2
allele frequency: 1.650382888830209e-5
allele num: 121184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2176G>T
  hgvsp: ENSP00000397873.2:p.Val726Leu
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2176G>T
  hgvsp: ENSP00000249923.3:p.Val726Leu
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5888
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8619
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3240
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 14
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2498
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val726Leu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10392
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-14487952-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14487952
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14487952
    reference: chr 11
allele count: 6
allele frequency: 4.955728822518832e-5
allele num: 121072
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2166C>T
  hgvsp: ENST00000439561.2:c.2166C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2166C>T
  hgvsp: ENST00000249923.3:c.2166C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13116
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2485
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 35867
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3217
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Phe722Phe
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16456
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

11-14487958-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14487958
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14487958
    reference: chr 11
allele count: 1
allele frequency: 8.269520202437855e-6
allele num: 120926
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2160A>G
  hgvsp: ENST00000249923.3:c.2160A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2160A>G
  hgvsp: ENST00000439561.2:c.2160A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 497
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
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genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8553
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3198
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 804
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  variant carriers: 0
hgvs: p.Thr720Thr
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 9.646922631680494e-5
  allele num: 10366
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

11-14487964-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14487964
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14487964
    reference: chr 11
allele count: 3
allele frequency: 2.485048292771823e-5
allele num: 120722
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2154A>G
  hgvsp: ENST00000439561.2:c.2154A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2154A>G
  hgvsp: ENST00000249923.3:c.2154A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26596
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 397
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2456
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln718Gln
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16342
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

11-14487970-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14487970
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14487970
    reference: chr 11
allele count: 1
allele frequency: 8.303303053954863e-6
allele num: 120434
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2148C>A
  hgvsp: ENST00000439561.2:c.2148C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2148C>A
  hgvsp: ENST00000249923.3:c.2148C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3157
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2432
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8447
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5853
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34887
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2116
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 9.25e1
  variant carriers: 0
hgvs: c.2148C>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

11-14487983-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14487983
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14487983
    reference: chr 11
allele count: 1
allele frequency: 8.361763328650746e-6
allele num: 119592
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2146-11T>C
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2146-11T>C
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25360
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7787
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2283
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5827
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33059
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11372
  num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

11-14488007-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14488007
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14488005
    reference: chr 11
allele count: 2
allele frequency: 1.696986152592995e-5
allele num: 117856
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2146-37_2146-36delCT
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2146-37_2146-36delCT
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4645
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2670
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20048
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4274
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3951
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6038
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5797
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1899
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2440
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10154
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: CAG
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

11-14488009-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14488009
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14488009
    reference: chr 11
allele count: 3
allele frequency: 2.548073656315825e-5
allele num: 117736
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2146-37C>G
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2146-37C>G
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7481
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10510
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4535
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2554
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18218
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4681
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4505
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5922
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5797
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11274
  num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-14488013-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14488013
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14488013
    reference: chr 11
allele count: 1
allele frequency: 8.566044200788075e-6
allele num: 116740
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2146-41G>T
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2146-41G>T
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12456
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7372
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2689
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5080
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3851
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13310
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2742
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5795
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4491
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4917
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5464
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 866
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

11-14488013-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14488013
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14488013
    reference: chr 11
allele count: 2
allele frequency: 1.713208840157615e-5
allele num: 116740
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2146-41G>C
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2146-41G>C
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12456
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12808
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7372
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4491
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1988
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5464
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4917
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2742
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5080
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3851
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2565
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1019
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 727
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genotype quality: GenotypeQuality
  all individuals: 5795
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 2689
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13310
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 3.095304423190021e-5
  allele num: 64614
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

11-14490180-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14490180
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14490180
    reference: chr 11
allele count: 1
allele frequency: 8.358408559010364e-6
allele num: 119640
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2145+47A>T
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2145+47A>T
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6626
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2989
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1481
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3284
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 35461
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 767
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2751
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2864
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

11-14490183-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14490183
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14490183
    reference: chr 11
allele count: 3
allele frequency: 2.508193431877466e-5
allele num: 119608
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2145+44C>T
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2145+44C>T
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6658
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5907
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2880
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1588
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 88
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11542
  num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum

11-14490188-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14490188
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14490188
    reference: chr 11
allele count: 1
allele frequency: 8.350591221858508e-6
allele num: 119752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2145+39G>A
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2145+39G>A
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1858
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3282
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1588
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6374
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35467
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 783
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2904
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.656509695290859e-5
  allele num: 11552
  num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ

11-14490189-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14490189
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14490189
    reference: chr 11
allele count: 1
allele frequency: 8.343902276216541e-6
allele num: 119848
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2145+38C>T
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2145+38C>T
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3281
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2935
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2987
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35467
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6653
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 750
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2749
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

11-14490189-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14490189
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14490189
    reference: chr 11
allele count: 1
allele frequency: 8.343902276216541e-6
allele num: 119848
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2145+38C>G
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2145+38C>G
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6879
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3281
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2749
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2987
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15596
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

11-14490189-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14490189
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14490189
    reference: chr 11
allele count: 3
allele frequency: 2.503170682864962e-5
allele num: 119848
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2145+38C>A
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2145+38C>A
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2749
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6653
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3281
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66186
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

11-14490191-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14490191
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14490191
    reference: chr 11
allele count: 1
allele frequency: 8.339588024351597e-6
allele num: 119910
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2145+36A>G
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2145+36A>G
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6832
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2990
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1478
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8640
  num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-14490194-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14490194
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14490194
    reference: chr 11
allele count: 1
allele frequency: 8.335973058135075e-6
allele num: 119962
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2145+33T>A
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2145+33T>A
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6659
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7370
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2752
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 35465
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2975
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3281
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2989
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.510117789187557e-5
  allele num: 66220
  num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

11-14490197-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14490197
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14490197
    reference: chr 11
allele count: 1
allele frequency: 8.328613785521537e-6
allele num: 120068
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2145+30A>T
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2145+30A>T
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5700
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6880
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3281
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8642
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP

11-14490201-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14490201
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14490201
    reference: chr 11
allele count: 1
allele frequency: 8.32251406504877e-6
allele num: 120156
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2145+26A>G
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2145+26A>G
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6881
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5921
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5702
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7874
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2990
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.509069507741527e-5
  allele num: 66266
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

11-14490210-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14490210
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14490210
    reference: chr 11
allele count: 3
allele frequency: 2.489296027083541e-5
allele num: 120516
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2145+17T>C
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2145+17T>C
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6879
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6664
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4107
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3007
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 3284
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11554
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/11-14490241-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14490241
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14490241
    reference: chr 11
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2131T>G
  hgvsp: ENSP00000397873.2:p.Ser711Ala
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2131T>G
  hgvsp: ENSP00000249923.3:p.Ser711Ala
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4877
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5701
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4085
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3279
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9794
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2772
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3116
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35465
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser711Ala
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ

11-14490248-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14490248
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14490248
    reference: chr 11
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2124C>T
  hgvsp: ENST00000249923.3:c.2124C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2124C>T
  hgvsp: ENST00000439561.2:c.2124C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6669
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5700
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5940
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9884
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1588
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3279
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35465
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2772
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2990
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro708Pro
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10406
  num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

11-14490249-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14490249
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14490249
    reference: chr 11
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2123C>A
  hgvsp: ENSP00000397873.2:p.Pro708His
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2123C>A
  hgvsp: ENSP00000249923.3:p.Pro708His
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4106
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3280
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35464
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9884
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2773
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro708His
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6612
  num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

11-14490253-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14490253
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14490253
    reference: chr 11
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2119G>C
  hgvsp: ENSP00000397873.2:p.Asp707His
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2119G>C
  hgvsp: ENSP00000249923.3:p.Asp707His
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35464
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3279
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2773
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9907
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2991
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp707His
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP

11-14490255-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14490255
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14490255
    reference: chr 11
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2117C>T
  hgvsp: ENSP00000249923.3:p.Ala706Val
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2117C>T
  hgvsp: ENSP00000397873.2:p.Ala706Val
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5700
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9915
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3279
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35463
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2772
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3119
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala706Val
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

11-14490256-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14490256
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14490256
    reference: chr 11
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2116G>C
  hgvsp: ENSP00000249923.3:p.Ala706Pro
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2116G>C
  hgvsp: ENSP00000397873.2:p.Ala706Pro
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5193
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4876
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3118
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35463
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3278
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9916
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genotype quality: GenotypeQuality
  all individuals: 2992
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2773
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala706Pro
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD

11-14490280-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14490280
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14490280
    reference: chr 11
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2092G>A
  hgvsp: ENSP00000249923.3:p.Gly698Ser
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2092G>A
  hgvsp: ENSP00000397873.2:p.Gly698Ser
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6872
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4880
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3128
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35462
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2769
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 2993
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9954
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly698Ser
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

11-14490283-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14490283
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14490283
    reference: chr 11
allele count: 1
allele frequency: 8.237232289950576e-6
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2089A>G
  hgvsp: ENSP00000397873.2:p.Met697Val
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2089A>G
  hgvsp: ENSP00000249923.3:p.Met697Val
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6872
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6632
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4182
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 5202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4881
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5699
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1512
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3129
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2994
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 3278
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35461
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9956
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met697Val
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum

11-14490299-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14490299
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14490299
    reference: chr 11
allele count: 1
allele frequency: 8.236418146476461e-6
allele num: 121412
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2073G>A
  hgvsp: ENST00000249923.3:c.2073G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2073G>A
  hgvsp: ENST00000439561.2:c.2073G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6872
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 442
  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2770
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3129
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3278
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2994
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu691Leu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

11-14490304-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14490304
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14490304
    reference: chr 11
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2068C>A
  hgvsp: ENSP00000249923.3:p.Gln690Lys
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2068C>A
  hgvsp: ENSP00000397873.2:p.Gln690Lys
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 4879
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2906
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 3278
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gln690Lys
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/11-14490321-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14490321
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14490321
    reference: chr 11
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2051G>T
  hgvsp: ENSP00000249923.3:p.Cys684Phe
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2051G>T
  hgvsp: ENSP00000397873.2:p.Cys684Phe
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 2905
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 441
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1852
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 6668
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 2904
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genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 549
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genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4
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hgvs: p.Cys684Phe
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16510
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

11-14490321-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14490321
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14490321
    reference: chr 11
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2051G>A
  hgvsp: ENSP00000249923.3:p.Cys684Tyr
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2051G>A
  hgvsp: ENSP00000397873.2:p.Cys684Tyr
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
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genotype depth: GenotypeDepth
  all individuals: 6668
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
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genotype depth: GenotypeDepth
  all individuals: 5938
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2904
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4
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hgvs: p.Cys684Tyr
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/11-14490332-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14490332
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14490332
    reference: chr 11
allele count: 6
allele frequency: 4.942013705851344e-5
allele num: 121408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2040T>G
  hgvsp: ENSP00000397873.2:p.Asn680Lys
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2040T>G
  hgvsp: ENSP00000249923.3:p.Asn680Lys
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 441
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genotype depth: GenotypeDepth
  all individuals: 551
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  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3279
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3129
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2994
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2769
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9968
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35460
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Asn680Lys
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66740
  num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

11-14490339-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14490339
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14490339
    reference: chr 11
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2033C>T
  hgvsp: ENSP00000249923.3:p.Ala678Val
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2033C>T
  hgvsp: ENSP00000397873.2:p.Ala678Val
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1852
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5696
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4883
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35454
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3130
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2771
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9963
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3278
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2995
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala678Val
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11576
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

11-14490352-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14490352
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14490352
    reference: chr 11
allele count: 14
allele frequency: 1.153212520593081e-4
allele num: 121400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2020A>G
  hgvsp: ENSP00000397873.2:p.Met674Val
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2020A>G
  hgvsp: ENSP00000249923.3:p.Met674Val
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6630
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6869
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5695
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3129
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2771
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2995
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1508
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 3278
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35458
  bin: 9.75e1
  variant carriers: 14
hgvs: p.Met674Val
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10406
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

11-14490362-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14490362
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14490362
    reference: chr 11
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2010C>T
  hgvsp: ENST00000249923.3:c.2010C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2010C>T
  hgvsp: ENST00000439561.2:c.2010C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6631
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6870
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5938
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 3279
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9933
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro670Pro
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16510
  num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/11-14490367-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14490367
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14490367
    reference: chr 11
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.2005G>T
  hgvsp: ENSP00000397873.2:p.Asp669Tyr
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.2005G>T
  hgvsp: ENSP00000249923.3:p.Asp669Tyr
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 6870
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6673
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35453
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3124
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9932
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3279
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp669Tyr
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10406
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

11-14490373-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14490373
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14490373
    reference: chr 11
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.1999C>T
  hgvsp: ENSP00000397873.2:p.Pro667Ser
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.1999C>T
  hgvsp: ENSP00000249923.3:p.Pro667Ser
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5696
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6673
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6870
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3119
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3279
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35453
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2770
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2995
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9903
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro667Ser
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

11-14490374-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14490374
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14490374
    reference: chr 11
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.1998G>C
  hgvsp: ENSP00000397873.2:p.Gln666His
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.1998G>C
  hgvsp: ENSP00000249923.3:p.Gln666His
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6870
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5696
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4175
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3279
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2768
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9891
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 35454
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3115
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2995
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln666His
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

11-14490374-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14490374
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14490374
    reference: chr 11
allele count: 2
allele frequency: 1.648016612007449e-5
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.1998G>A
  hgvsp: ENST00000249923.3:c.1998G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.1998G>A
  hgvsp: ENST00000439561.2:c.1998G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4891
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5696
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5937
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2904
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6676
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6870
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2768
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9891
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3279
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1590
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln666Gln
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 2
  allele frequency: 1.727414061150458e-4
  allele num: 11578
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

11-14490389-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14490389
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14490389
    reference: chr 11
allele count: 51
allele frequency: 4.205699960416941e-4
allele num: 121264
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.1983G>A
  hgvsp: ENST00000249923.3:c.1983G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.1983G>A
  hgvsp: ENST00000439561.2:c.1983G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6866
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2900
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6676
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 5694
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 9.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9766
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 51
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2991
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3278
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg661Arg
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

11-14490404-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 14490404
    reference: chr 11
  end: Position
    type: ExactPosition
    position: 14490404
    reference: chr 11
allele count: 2
allele frequency: 1.65371258475277e-5
allele num: 120940
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000249923
  ensembl transcript: ENST00000249923
  gene symbol: COPB1
  hgvsc: ENST00000249923.3:c.1968A>G
  hgvsp: ENST00000249923.3:c.1968A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000129083
  ensembl protein: ENSP00000397873
  ensembl transcript: ENST00000439561
  gene symbol: COPB1
  hgvsc: ENST00000439561.2:c.1968A>G
  hgvsp: ENST00000439561.2:c.1968A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2231
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6872
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4069
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4097
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5696
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3058
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2763
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3281
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35443
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9296
  bin: 6.25e1
  variant carriers: 0
hgvs: c.1968A>G
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

European (Finnish)
type: Population
allele count: 1
allele frequency: 9.09090909090909e-3
allele num: 110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2044
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.773049645390071e-3
allele num: 564
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.04919e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.82e-1

MQ
type: SiteQuality
SIO_000300: 5.643e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.041e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.85e-1

FS
type: SiteQuality
SIO_000300: 1.9186e1

VQSLOD
type: SiteQuality
SIO_000300: -7.834e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.295e-1

QD
type: SiteQuality
SIO_000300: 9.3e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1198
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 74
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.107174490699734e-3
allele num: 4516
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 4.545454545454545e-3
allele num: 220
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-1

FS
type: SiteQuality
SIO_000300: 2.488e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.693e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.33e-1

DP
type: SiteQuality
SIO_000300: 7.41852e5

MQ
type: SiteQuality
SIO_000300: 5.557e1

QD
type: SiteQuality
SIO_000300: 4.8e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.916443081640475e-4
allele num: 5218
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 74
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -7.527e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.58e-1

DP
type: SiteQuality
SIO_000300: 7.24068e5

MQ
type: SiteQuality
SIO_000300: 5.533e1

FS
type: SiteQuality
SIO_000300: 1.9037e1

QD
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.51e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.156e0

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 416
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.038585209003215e-4
allele num: 1244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5218
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.24068e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.156e0

MQ
type: SiteQuality
SIO_000300: 5.533e1

FS
type: SiteQuality
SIO_000300: 1.9037e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.51e-2

VQSLOD
type: SiteQuality
SIO_000300: -7.527e-1

QD
type: SiteQuality
SIO_000300: 1.07e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 6.963788300835655e-4
allele num: 1436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16934
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.4431e5

MQ
type: SiteQuality
SIO_000300: 5.431e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-1

QD
type: SiteQuality
SIO_000300: 1.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.709e-1

FS
type: SiteQuality
SIO_000300: 7.188e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.450000000000001e-2

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.69139904023625e-5
allele num: 27090
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3892
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7156
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2956
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e-1

DP
type: SiteQuality
SIO_000300: 9.73743e5

FS
type: SiteQuality
SIO_000300: 3.826e0

MQ
type: SiteQuality
SIO_000300: 5.349e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.09e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.841e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

QD
type: SiteQuality
SIO_000300: 1.3e0

MQRankSum
type: SiteQuality
SIO_000300: -3.15e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.368882361301938e-5
allele num: 42214
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6752
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4980
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10626
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.94e-2

DP
type: SiteQuality
SIO_000300: 1.04436e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

MQ
type: SiteQuality
SIO_000300: 5.344e1

QD
type: SiteQuality
SIO_000300: 8.58e0

VQSLOD
type: SiteQuality
SIO_000300: -1.114e0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15888
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.053962900505902e-4
allele num: 66416
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

MQRankSum
type: SiteQuality
SIO_000300: 4.44e-1

DP
type: SiteQuality
SIO_000300: 1.898497e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.86e-1

QD
type: SiteQuality
SIO_000300: 1.556e1

MQ
type: SiteQuality
SIO_000300: 5.986e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.44e-2

FS
type: SiteQuality
SIO_000300: 1.896e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66444
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.252348152786475e-4
allele num: 15970
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.239e0

DP
type: SiteQuality
SIO_000300: 1.906788e6

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

FS
type: SiteQuality
SIO_000300: 1.343e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.82e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-2

QD
type: SiteQuality
SIO_000300: 1.397e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.238e0

QD
type: SiteQuality
SIO_000300: 1.523e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.379e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-2

MQ
type: SiteQuality
SIO_000300: 5.903e1

DP
type: SiteQuality
SIO_000300: 1.908587e6

VQSLOD
type: SiteQuality
SIO_000300: -1.751e-1

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

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66470
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16008
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.072e0

FS
type: SiteQuality
SIO_000300: 6.275e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.88e0

DP
type: SiteQuality
SIO_000300: 1.909445e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.36e-1

QD
type: SiteQuality
SIO_000300: 1.714e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.67e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.85e0

MQRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.222775357809582e-5
allele num: 16070
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66504
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.02e-2

FS
type: SiteQuality
SIO_000300: 1.14e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

VQSLOD
type: SiteQuality
SIO_000300: -1.9e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.965e0

MQRankSum
type: SiteQuality
SIO_000300: 2.4e0

QD
type: SiteQuality
SIO_000300: 1.476e1

DP
type: SiteQuality
SIO_000300: 1.914052e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.470660901791229e-4
allele num: 16190
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 7.115e0

VQSLOD
type: SiteQuality
SIO_000300: 6.58e-1

DP
type: SiteQuality
SIO_000300: 1.920772e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

QD
type: SiteQuality
SIO_000300: 1.319e1

MQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16210
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.761e0

VQSLOD
type: SiteQuality
SIO_000300: -2.93e-2

DP
type: SiteQuality
SIO_000300: 1.922216e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.132e0

FS
type: SiteQuality
SIO_000300: 3.256e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.06e-2

QD
type: SiteQuality
SIO_000300: 1.42e1

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

East Asian
type: Population
allele count: 4
allele frequency: 4.623208506703652e-4
allele num: 8652
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.64e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.12e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.225e-1

QD
type: SiteQuality
SIO_000300: 1.043e1

DP
type: SiteQuality
SIO_000300: 1.92704e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.34e-2

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.51e-1

DP
type: SiteQuality
SIO_000300: 1.929582e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.1e-2

MQ
type: SiteQuality
SIO_000300: 5.931e1

FS
type: SiteQuality
SIO_000300: 6.44e-1

QD
type: SiteQuality
SIO_000300: 1.422e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.931574e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.82e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.368e1

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999040307101727e-5
allele num: 66688
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.52e-1

DP
type: SiteQuality
SIO_000300: 1.931718e6

FS
type: SiteQuality
SIO_000300: 2.345e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-2

QD
type: SiteQuality
SIO_000300: 1.22e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.372e0

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.26e-2

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.997181324777355e-5
allele num: 66698
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.77e0

FS
type: SiteQuality
SIO_000300: 5.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.919999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

DP
type: SiteQuality
SIO_000300: 1.93158e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.37e-2

QD
type: SiteQuality
SIO_000300: 1.374e1

MQRankSum
type: SiteQuality
SIO_000300: 6.3e-2

African
type: Population
allele count: 1
allele frequency: 9.611687812379854e-5
allele num: 10404
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.11e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.33e-2

DP
type: SiteQuality
SIO_000300: 1.93183e6

QD
type: SiteQuality
SIO_000300: 1.393e1

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.028e-1

DP
type: SiteQuality
SIO_000300: 1.93142e6

MQ
type: SiteQuality
SIO_000300: 5.937e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.644e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 3.026e0

VQSLOD
type: SiteQuality
SIO_000300: 6.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.9314e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.392e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.675e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.186e1

MQRankSum
type: SiteQuality
SIO_000300: 3.74e-1

DP
type: SiteQuality
SIO_000300: 1.931068e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.08e-2

QD
type: SiteQuality
SIO_000300: 1.97e0

VQSLOD
type: SiteQuality
SIO_000300: -3.043e0

MQ
type: SiteQuality
SIO_000300: 5.873e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.399999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.19e-1

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.38e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.546e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.03e-1

QD
type: SiteQuality
SIO_000300: 1.576e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.48e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

DP
type: SiteQuality
SIO_000300: 1.930989e6

MQRankSum
type: SiteQuality
SIO_000300: 1.76e0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

DP
type: SiteQuality
SIO_000300: 1.930741e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.199e0

FS
type: SiteQuality
SIO_000300: 1.154e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e0

MQRankSum
type: SiteQuality
SIO_000300: -7.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.275e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.39e-1

MQ
type: SiteQuality
SIO_000300: 5.903e1

FS
type: SiteQuality
SIO_000300: 9.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.922e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.812e0

DP
type: SiteQuality
SIO_000300: 1.930757e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.1e-1

QD
type: SiteQuality
SIO_000300: 5.08e0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.03e-1

FS
type: SiteQuality
SIO_000300: 5.485e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.49e-1

DP
type: SiteQuality
SIO_000300: 1.930686e6

VQSLOD
type: SiteQuality
SIO_000300: 9.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.0e0

QD
type: SiteQuality
SIO_000300: 1.361e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.379e0

MQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

FS
type: SiteQuality
SIO_000300: 1.151e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
SIO_000300: -6.651e-1

DP
type: SiteQuality
SIO_000300: 1.930467e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.59e-1

QD
type: SiteQuality
SIO_000300: 1.821e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.930304e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.44e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.038e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

VQSLOD
type: SiteQuality
SIO_000300: -4.872e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.057e0

FS
type: SiteQuality
SIO_000300: 1.467e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.203e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.378e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.671522719389525e-5
allele num: 11532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
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Other
type: Population
allele count: 0
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allele num: 906
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.45e1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

FS
type: SiteQuality
SIO_000300: 6.963e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQRankSum
type: SiteQuality
SIO_000300: 4.83e-1

MQ
type: SiteQuality
SIO_000300: 5.929e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.402e0

DP
type: SiteQuality
SIO_000300: 1.930227e6

Other
type: Population
allele count: 0
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allele num: 906
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 5.929e1

MQRankSum
type: SiteQuality
SIO_000300: 4.83e-1

FS
type: SiteQuality
SIO_000300: 6.963e0

DP
type: SiteQuality
SIO_000300: 1.930227e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

QD
type: SiteQuality
SIO_000300: 1.45e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.402e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

African
type: Population
allele count: 0
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allele num: 10400
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South Asian
type: Population
allele count: 0
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allele num: 16504
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Latino
type: Population
allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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FS
type: SiteQuality
SIO_000300: 1.8027e1

MQRankSum
type: SiteQuality
SIO_000300: 4.34e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.335e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

DP
type: SiteQuality
SIO_000300: 1.929776e6

QD
type: SiteQuality
SIO_000300: 1.396e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211827435773146e-4
allele num: 16504
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African
type: Population
allele count: 2
allele frequency: 1.923076923076923e-4
allele num: 10400
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
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MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.763e0

VQSLOD
type: SiteQuality
SIO_000300: 2.09e0

DP
type: SiteQuality
SIO_000300: 1.929655e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.01e-1

QD
type: SiteQuality
SIO_000300: 1.334e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66668
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 16
allele frequency: 9.704027171276079e-4
allele num: 16488
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ReadPosRankSum
type: SiteQuality
SIO_000300: 9.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

FS
type: SiteQuality
SIO_000300: 6.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.928282e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.409e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001110410852015e-5
allele num: 66642
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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allele num: 904
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
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allele num: 16488
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DP
type: SiteQuality
SIO_000300: 1.926861e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 3.403e0

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.577e1

MQRankSum
type: SiteQuality
SIO_000300: 5.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.936e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.06e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
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African
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allele count: 6
allele frequency: 5.779233288383741e-4
allele num: 10382
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66606
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MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.24e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

FS
type: SiteQuality
SIO_000300: 6.62e-1

DP
type: SiteQuality
SIO_000300: 1.924063e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.83e-1

QD
type: SiteQuality
SIO_000300: 1.286e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
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Latino
type: Population
allele count: 0
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allele num: 11474
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East Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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South Asian
type: Population
allele count: 0
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MQRankSum
type: SiteQuality
SIO_000300: 1.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.6e-2

FS
type: SiteQuality
SIO_000300: 2.64e0

MQ
type: SiteQuality
SIO_000300: 5.716e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.33e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.976e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.326e1

DP
type: SiteQuality
SIO_000300: 1.920838e6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 9.652509652509652e-5
allele num: 10360
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
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Latino
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allele count: 0
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East Asian
type: Population
allele count: 2
allele frequency: 2.321262766945218e-4
allele num: 8616
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Other
type: Population
allele count: 0
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e0

FS
type: SiteQuality
SIO_000300: 1.0453e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.514e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.499e1

MQRankSum
type: SiteQuality
SIO_000300: 8.64e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 1.914656e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.6e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508159140952553e-5
allele num: 66306
num of homozygotes: 0

Latino
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allele count: 0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8604
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
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South Asian
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allele count: 0
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African
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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allele num: 898
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.313e1

DP
type: SiteQuality
SIO_000300: 1.905685e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.452e0

VQSLOD
type: SiteQuality
SIO_000300: 2.7e-1

African
type: Population
allele count: 0
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num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517128379403465e-5
allele num: 65914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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allele num: 888
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MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

DP
type: SiteQuality
SIO_000300: 1.864829e6

FS
type: SiteQuality
SIO_000300: 1.0989e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.445e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.809e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

East Asian
type: Population
allele count: 2
allele frequency: 2.359603586597452e-4
allele num: 8476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
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Latino
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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allele num: 880
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MQRankSum
type: SiteQuality
SIO_000300: 3.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.168e0

FS
type: SiteQuality
SIO_000300: 9.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.804e1

DP
type: SiteQuality
SIO_000300: 1.683063e6

Other
type: Population
allele count: 0
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East Asian
type: Population
allele count: 0
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African
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allele count: 3
allele frequency: 2.953337271116361e-4
allele num: 10158
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.663537e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.68e-1

FS
type: SiteQuality
SIO_000300: 4.577e0

QD
type: SiteQuality
SIO_000300: 1.685e1

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10084
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

Latino
type: Population
allele count: 0
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allele num: 11210
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.186239620403321e-4
allele num: 8430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15012
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64614
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.51e-1

DP
type: SiteQuality
SIO_000300: 1.621582e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.805e0

VQSLOD
type: SiteQuality
SIO_000300: 6.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

QD
type: SiteQuality
SIO_000300: 1.298e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.64e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11210
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10084
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15012
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VQSLOD
type: SiteQuality
SIO_000300: 6.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.621582e6

MQRankSum
type: SiteQuality
SIO_000300: -5.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.81e-1

QD
type: SiteQuality
SIO_000300: 1.298e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.805e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.64e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66100
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
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African
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15496
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.79e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.84e-1

DP
type: SiteQuality
SIO_000300: 3.021216e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.45e0

QD
type: SiteQuality
SIO_000300: 1.181e1

MQRankSum
type: SiteQuality
SIO_000300: 1.56e0

VQSLOD
type: SiteQuality
SIO_000300: 2.01e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15498
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African
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allele count: 2
allele frequency: 1.93050193050193e-4
allele num: 10360
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51336299524804e-5
allele num: 66078
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.466e0

VQSLOD
type: SiteQuality
SIO_000300: 2.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.22e0

DP
type: SiteQuality
SIO_000300: 3.024402e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

FS
type: SiteQuality
SIO_000300: 7.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

QD
type: SiteQuality
SIO_000300: 1.556e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66168
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.43e0

DP
type: SiteQuality
SIO_000300: 3.030422e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.252e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

QD
type: SiteQuality
SIO_000300: 1.156e1

VQSLOD
type: SiteQuality
SIO_000300: -1.161e0

FS
type: SiteQuality
SIO_000300: 4.294e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

MQ
type: SiteQuality
SIO_000300: 5.867e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66186
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.465e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQ
type: SiteQuality
SIO_000300: 5.973e1

DP
type: SiteQuality
SIO_000300: 3.032561e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.33e0

FS
type: SiteQuality
SIO_000300: 3.65e0

VQSLOD
type: SiteQuality
SIO_000300: 6.55e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.99e-1

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510893542441e-5
allele num: 66186
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
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MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.33e0

FS
type: SiteQuality
SIO_000300: 3.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.98e-1

DP
type: SiteQuality
SIO_000300: 3.032561e6

QD
type: SiteQuality
SIO_000300: 1.465e1

VQSLOD
type: SiteQuality
SIO_000300: 6.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.24e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.99e-1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.597402597402597e-4
allele num: 11550
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.33e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: -3.99e-1

QD
type: SiteQuality
SIO_000300: 1.465e1

FS
type: SiteQuality
SIO_000300: 3.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.55e-1

DP
type: SiteQuality
SIO_000300: 3.032561e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.24e-1

South Asian
type: Population
allele count: 1
allele frequency: 6.396315722144045e-5
allele num: 15634
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66208
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11554
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VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.053e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.04e-2

DP
type: SiteQuality
SIO_000300: 3.034688e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

QD
type: SiteQuality
SIO_000300: 1.217e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.2e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15670
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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allele num: 896
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FS
type: SiteQuality
SIO_000300: 7.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.16e0

DP
type: SiteQuality
SIO_000300: 3.039013e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.62e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.701e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

QD
type: SiteQuality
SIO_000300: 4.5e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.14e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.28e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509479531457553e-5
allele num: 66248
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.225e0

FS
type: SiteQuality
SIO_000300: 4.382e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 8.800000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.059e0

QD
type: SiteQuality
SIO_000300: 1.549e1

DP
type: SiteQuality
SIO_000300: 3.042022e6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

African
type: Population
allele count: 0
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allele num: 10378
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

DP
type: SiteQuality
SIO_000300: 3.046238e6

QD
type: SiteQuality
SIO_000300: 1.421e1

MQRankSum
type: SiteQuality
SIO_000300: -1.134e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.338e0

FS
type: SiteQuality
SIO_000300: 1.49e0

VQSLOD
type: SiteQuality
SIO_000300: 4.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.04e0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.51997830410414e-5
allele num: 66372
num of homozygotes: 0

African
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allele count: 0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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allele num: 898
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FS
type: SiteQuality
SIO_000300: 4.163e0

QD
type: SiteQuality
SIO_000300: 1.448e1

MQ
type: SiteQuality
SIO_000300: 5.944e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.3e-3

DP
type: SiteQuality
SIO_000300: 3.05837e6

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

VQSLOD
type: SiteQuality
SIO_000300: 5.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.0e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
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African
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allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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South Asian
type: Population
allele count: 0
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DP
type: SiteQuality
SIO_000300: 3.072574e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.93e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.287e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.798e0

QD
type: SiteQuality
SIO_000300: 5.05e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Other
type: Population
allele count: 0
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num of homozygotes: 0

Latino
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allele count: 0
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num of homozygotes: 0

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

South Asian
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allele count: 0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.07e-1

QD
type: SiteQuality
SIO_000300: 1.704e1

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-2

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 3.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.68e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.97e-1

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

Latino
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num of homozygotes: 0

South Asian
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allele count: 0
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African
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allele count: 0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499745043342632e-5
allele num: 66678
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Other
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

FS
type: SiteQuality
SIO_000300: 1.534e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.76e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.073058e6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele num: 11576
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South Asian
type: Population
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African
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European (Finnish)
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East Asian
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MQ
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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QD
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VQSLOD
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FS
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InbreedingCoeff
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DP
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East Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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African
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South Asian
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FS
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ReadPosRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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DP
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ClippingRankSum
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MQRankSum
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QD
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European (Non-Finnish)
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African
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East Asian
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South Asian
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European (Finnish)
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Other
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FS
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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QD
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DP
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VQSLOD
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Latino
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South Asian
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East Asian
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African
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European (Non-Finnish)
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Other
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DP
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QD
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BaseQRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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FS
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MQ
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InbreedingCoeff
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Latino
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South Asian
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East Asian
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European (Finnish)
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African
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European (Non-Finnish)
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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DP
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QD
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MQ
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BaseQRankSum
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Latino
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Other
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African
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European (Non-Finnish)
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East Asian
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European (Finnish)
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ReadPosRankSum
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DP
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FS
type: SiteQuality
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QD
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MQRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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European (Non-Finnish)
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South Asian
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European (Finnish)
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Latino
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African
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Other
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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MQ
type: SiteQuality
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QD
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BaseQRankSum
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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African
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European (Non-Finnish)
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Latino
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East Asian
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Other
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European (Finnish)
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InbreedingCoeff
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MQ
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BaseQRankSum
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FS
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QD
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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MQRankSum
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DP
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South Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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East Asian
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African
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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FS
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QD
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DP
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InbreedingCoeff
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VQSLOD
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MQRankSum
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MQ
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ReadPosRankSum
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Other
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East Asian
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South Asian
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Latino
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African
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European (Finnish)
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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FS
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BaseQRankSum
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DP
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MQ
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QD
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European (Non-Finnish)
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East Asian
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African
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European (Finnish)
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South Asian
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Other
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MQRankSum
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BaseQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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QD
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DP
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InbreedingCoeff
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ClippingRankSum
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MQ
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European (Finnish)
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East Asian
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European (Non-Finnish)
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Other
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South Asian
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Latino
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ReadPosRankSum
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BaseQRankSum
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QD
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ClippingRankSum
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FS
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MQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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MQ
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African
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Other
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Latino
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East Asian
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European (Finnish)
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European (Non-Finnish)
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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QD
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FS
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BaseQRankSum
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DP
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MQ
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East Asian
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European (Non-Finnish)
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South Asian
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Latino
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European (Finnish)
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Other
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InbreedingCoeff
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FS
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QD
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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DP
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BaseQRankSum
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MQRankSum
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MQ
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African
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Other
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European (Finnish)
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European (Non-Finnish)
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South Asian
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East Asian
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QD
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MQ
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ReadPosRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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VQSLOD
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FS
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ClippingRankSum
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MQRankSum
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European (Non-Finnish)
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African
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European (Finnish)
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Latino
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Other
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South Asian
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VQSLOD
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.154e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.017e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

DP
type: SiteQuality
SIO_000300: 3.073992e6

MQ
type: SiteQuality
SIO_000300: 5.947e1

FS
type: SiteQuality
SIO_000300: 1.149e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.75e-1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.149e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.947e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.154e0

VQSLOD
type: SiteQuality
SIO_000300: 2.01e0

DP
type: SiteQuality
SIO_000300: 3.073992e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.017e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

QD
type: SiteQuality
SIO_000300: 1.132e1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

African
type: Population
allele count: 49
allele frequency: 4.708821833557563e-3
allele num: 10406
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.078001e6

QD
type: SiteQuality
SIO_000300: 1.254e1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.25e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16236
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.212389380530973e-3
allele num: 904
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.327e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.31e-1

QD
type: SiteQuality
SIO_000300: 1.462e1

DP
type: SiteQuality
SIO_000300: 3.065748e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3