21-47541079-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541079
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541079
    reference: chr 21
allele count: 1
allele frequency: 8.676187336236963e-6
allele num: 115258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1458+42G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1458+42G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.81+42G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1458+42G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1458+42G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1458+42G>A
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6976
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11082
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15815
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4881
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4115
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4470
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3025
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

21-47541080-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541080
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541080
    reference: chr 21
allele count: 3
allele frequency: 2.604709314440508e-5
allele num: 115176
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1458+43G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1458+43G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1458+43G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1458+43G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1458+43G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.81+43G>A
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11078
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13248
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6823
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 1.75e1
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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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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 338
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genotype quality: GenotypeQuality
  all individuals: 1352
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3256
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

21-47541083-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541083
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541083
    reference: chr 21
allele count: 4
allele frequency: 3.492229788720098e-5
allele num: 114540
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1458+46G>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1458+46G>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1458+46G>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1458+46G>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1458+46G>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.81+46G>C
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11514
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 11611
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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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
  all individuals: 797
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

21-47541088-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541088
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541088
    reference: chr 21
allele count: 3
allele frequency: 2.640845070422535e-5
allele num: 113600
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1458+51C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1458+51C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1458+51C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1458+51C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.81+51C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1458+51C>T
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13203
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  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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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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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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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5417
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

21-47541431-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541431
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541431
    reference: chr 21
allele count: 1
allele frequency: 8.637965586345104e-6
allele num: 115768
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1459-39C>G
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.82-39C>G
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1459-39C>G
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1459-39C>G
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1459-39C>G
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1459-39C>G
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18871
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6012
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5586
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2583
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6744
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2632
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

21-47541438-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541438
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541438
    reference: chr 21
allele count: 1
allele frequency: 8.594166279929183e-6
allele num: 116358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1459-32T>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1459-32T>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.82-32T>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1459-32T>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1459-32T>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1459-32T>C
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14600
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2345
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31004
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

21-47541440-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541440
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541440
    reference: chr 21
allele count: 1
allele frequency: 8.584870025067821e-6
allele num: 116484
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1459-30C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1459-30C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.82-30C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1459-30C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1459-30C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1459-30C>T
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32146
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6752
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
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genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

21-47541443-ACTTCTGAATTTCTCTC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541443
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541427
    reference: chr 21
allele count: 1
allele frequency: 8.557540905045526e-6
allele num: 116856
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33752
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2360
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6069
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1874
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: ACTTCTGAATTTCTCTC
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

21-47541457-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541457
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541457
    reference: chr 21
allele count: 7
allele frequency: 5.935523258771855e-5
allele num: 117934
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1459-13C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1459-13C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1459-13C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1459-13C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.82-13C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1459-13C>T
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16087
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25864
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6663
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2397
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6279
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6762
  bin: 9.75e1
  variant carriers: 7
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

21-47541459-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541459
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541459
    reference: chr 21
allele count: 1
allele frequency: 8.468547813420954e-6
allele num: 118084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1459-11C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1459-11C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.82-11C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1459-11C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1459-11C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1459-11C>T
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6324
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36679
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6758
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

21-47541462-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541462
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541462
    reference: chr 21
allele count: 29
allele frequency: 2.450773261218626e-4
allele num: 118330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1459-8G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1459-8G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.82-8G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1459-8G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1459-8G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1459-8G>A
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16406
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6754
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1960
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6369
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2412
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 2.25e1
  variant carriers: 0
hgvs: c.1459-8G>A
num of homozygotes: 1
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: G
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

21-47541463-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541463
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541463
    reference: chr 21
allele count: 5
allele frequency: 4.221760643058581e-5
allele num: 118434
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1459-7C>G
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.82-7C>G
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1459-7C>G
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1459-7C>G
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1459-7C>G
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1459-7C>G
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1459-7C>G
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD

21-47541468-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541468
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541468
    reference: chr 21
allele count: 1
allele frequency: 8.422896802668375e-6
allele num: 118724
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1459-2A>G
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1459-2A>G
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1459-2A>G
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1459-2A>G
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.82-2A>G
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1459-2A>G
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6757
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1980
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37479
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2435
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
hgvs: c.1459-2A>G
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum

21-47541474-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541474
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541474
    reference: chr 21
allele count: 1
allele frequency: 8.411560849231184e-6
allele num: 118884
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1463C>T
  hgvsp: ENSP00000312529.5:p.Ser488Phe
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1463C>T
  hgvsp: ENSP00000300527.4:p.Ser488Phe
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.86C>T
  hgvsp: ENSP00000395751.1:p.Ser29Phe
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1463C>T
  hgvsp: ENSP00000380870.1:p.Ser488Phe
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1463C>T
  hgvsp: ENSP00000387115.1:p.Ser488Phe
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1463C>T
  hgvsp: ENSP00000350497.4:p.Ser488Phe
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6852
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6465
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37566
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser488Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

21-47541476-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541476
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541476
    reference: chr 21
allele count: 2
allele frequency: 1.68200090828049e-5
allele num: 118906
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1465C>T
  hgvsp: ENSP00000380870.1:p.Arg489Trp
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1465C>T
  hgvsp: ENSP00000387115.1:p.Arg489Trp
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1465C>T
  hgvsp: ENSP00000300527.4:p.Arg489Trp
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1465C>T
  hgvsp: ENSP00000312529.5:p.Arg489Trp
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1465C>T
  hgvsp: ENSP00000350497.4:p.Arg489Trp
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.88C>T
  hgvsp: ENSP00000395751.1:p.Arg30Trp
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1124
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6884
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6458
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37553
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2433
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg489Trp
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

21-47541477-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541477
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541477
    reference: chr 21
allele count: 229
allele frequency: 1.925016812373907e-3
allele num: 118960
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1466G>A
  hgvsp: ENSP00000387115.1:p.Arg489Gln
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.89G>A
  hgvsp: ENSP00000395751.1:p.Arg30Gln
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1466G>A
  hgvsp: ENSP00000380870.1:p.Arg489Gln
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1466G>A
  hgvsp: ENSP00000312529.5:p.Arg489Gln
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1466G>A
  hgvsp: ENSP00000300527.4:p.Arg489Gln
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1466G>A
  hgvsp: ENSP00000350497.4:p.Arg489Gln
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26095
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16814
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6887
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 9.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 4.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 4.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 6.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 5.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 5.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 3.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6937
  bin: 9.75e1
  variant carriers: 227
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6437
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2418
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg489Gln
num of homozygotes: 1
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/21-47541483-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541483
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541483
    reference: chr 21
allele count: 2
allele frequency: 1.679684219366759e-5
allele num: 119070
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1472A>C
  hgvsp: ENSP00000350497.4:p.Asp491Ala
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1472A>C
  hgvsp: ENSP00000300527.4:p.Asp491Ala
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.95A>C
  hgvsp: ENSP00000395751.1:p.Asp32Ala
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1472A>C
  hgvsp: ENSP00000380870.1:p.Asp491Ala
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1472A>C
  hgvsp: ENSP00000387115.1:p.Asp491Ala
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1472A>C
  hgvsp: ENSP00000312529.5:p.Asp491Ala
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37699
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1702
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp491Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

21-47541485-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541485
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541485
    reference: chr 21
allele count: 1
allele frequency: 8.395741679819996e-6
allele num: 119108
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1474C>T
  hgvsp: ENSP00000312529.5:p.Pro492Ser
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1474C>T
  hgvsp: ENSP00000300527.4:p.Pro492Ser
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.97C>T
  hgvsp: ENSP00000395751.1:p.Pro33Ser
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1474C>T
  hgvsp: ENSP00000380870.1:p.Pro492Ser
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1474C>T
  hgvsp: ENSP00000387115.1:p.Pro492Ser
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1474C>T
  hgvsp: ENSP00000350497.4:p.Pro492Ser
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6736
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 752
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6492
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro492Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/21-47541486-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541486
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541486
    reference: chr 21
allele count: 2
allele frequency: 1.67897918065816e-5
allele num: 119120
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1475C>A
  hgvsp: ENSP00000387115.1:p.Pro492His
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1475C>A
  hgvsp: ENSP00000312529.5:p.Pro492His
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.98C>A
  hgvsp: ENSP00000395751.1:p.Pro33His
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1475C>A
  hgvsp: ENSP00000380870.1:p.Pro492His
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1475C>A
  hgvsp: ENSP00000350497.4:p.Pro492His
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1475C>A
  hgvsp: ENSP00000300527.4:p.Pro492His
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17067
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6503
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro492His
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

21-47541487-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541487
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541487
    reference: chr 21
allele count: 2
allele frequency: 1.678894615784967e-5
allele num: 119126
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.99C>T
  hgvsp: ENST00000413758.1:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1476C>T
  hgvsp: ENST00000300527.4:c.1476C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1476C>T
  hgvsp: ENST00000310645.5:c.1476C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1476C>T
  hgvsp: ENST00000409416.1:c.1476C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1476C>T
  hgvsp: ENST00000397763.1:c.1476C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1476C>T
  hgvsp: ENST00000357838.4:c.1476C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6964
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17085
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2424
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37803
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6735
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro492Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

21-47541488-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541488
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541488
    reference: chr 21
allele count: 1
allele frequency: 8.392359595823962e-6
allele num: 119156
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1477G>A
  hgvsp: ENSP00000300527.4:p.Gly493Ser
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.100G>A
  hgvsp: ENSP00000395751.1:p.Gly34Ser
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1477G>A
  hgvsp: ENSP00000380870.1:p.Gly493Ser
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1477G>A
  hgvsp: ENSP00000387115.1:p.Gly493Ser
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1477G>A
  hgvsp: ENSP00000350497.4:p.Gly493Ser
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1477G>A
  hgvsp: ENSP00000312529.5:p.Gly493Ser
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 682
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6511
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly493Ser
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/21-47541500-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541500
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541500
    reference: chr 21
allele count: 42
allele frequency: 3.523430814919213e-4
allele num: 119202
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1489C>A
  hgvsp: ENSP00000300527.4:p.Pro497Thr
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1489C>A
  hgvsp: ENSP00000380870.1:p.Pro497Thr
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1489C>A
  hgvsp: ENSP00000350497.4:p.Pro497Thr
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1489C>A
  hgvsp: ENSP00000387115.1:p.Pro497Thr
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.112C>A
  hgvsp: ENSP00000395751.1:p.Pro38Thr
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1489C>A
  hgvsp: ENSP00000312529.5:p.Pro497Thr
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37909
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 1
hgvs: p.Pro497Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

21-47541502-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541502
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541502
    reference: chr 21
allele count: 1
allele frequency: 8.389120987902887e-6
allele num: 119202
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1491C>T
  hgvsp: ENST00000300527.4:c.1491C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.114C>T
  hgvsp: ENST00000413758.1:c.114C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1491C>T
  hgvsp: ENST00000310645.5:c.1491C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1491C>T
  hgvsp: ENST00000397763.1:c.1491C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1491C>T
  hgvsp: ENST00000409416.1:c.1491C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1491C>T
  hgvsp: ENST00000357838.4:c.1491C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37928
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2437
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro497Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

21-47541503-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541503
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541503
    reference: chr 21
allele count: 1
allele frequency: 8.391092016715055e-6
allele num: 119174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1492C>T
  hgvsp: ENSP00000350497.4:p.Arg498Cys
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1492C>T
  hgvsp: ENSP00000312529.5:p.Arg498Cys
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1492C>T
  hgvsp: ENSP00000300527.4:p.Arg498Cys
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.115C>T
  hgvsp: ENSP00000395751.1:p.Arg39Cys
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1492C>T
  hgvsp: ENSP00000380870.1:p.Arg498Cys
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1492C>T
  hgvsp: ENSP00000387115.1:p.Arg498Cys
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25855
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37866
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6501
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg498Cys
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

21-47541504-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541504
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541504
    reference: chr 21
allele count: 3
allele frequency: 2.516905213349665e-5
allele num: 119194
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1493G>A
  hgvsp: ENSP00000387115.1:p.Arg498His
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1493G>A
  hgvsp: ENSP00000300527.4:p.Arg498His
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1493G>A
  hgvsp: ENSP00000312529.5:p.Arg498His
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1493G>A
  hgvsp: ENSP00000380870.1:p.Arg498His
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.116G>A
  hgvsp: ENSP00000395751.1:p.Arg39His
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1493G>A
  hgvsp: ENSP00000350497.4:p.Arg498His
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25850
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6967
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1690
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg498His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

21-47541509-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541509
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541509
    reference: chr 21
allele count: 1
allele frequency: 8.393345755485052e-6
allele num: 119142
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1498G>C
  hgvsp: ENSP00000387115.1:p.Asp500His
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1498G>C
  hgvsp: ENSP00000300527.4:p.Asp500His
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1498G>C
  hgvsp: ENSP00000350497.4:p.Asp500His
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1498G>C
  hgvsp: ENSP00000380870.1:p.Asp500His
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.121G>C
  hgvsp: ENSP00000395751.1:p.Asp41His
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1498G>C
  hgvsp: ENSP00000312529.5:p.Asp500His
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37831
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6736
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2431
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp500His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD

21-47541513-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541513
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541513
    reference: chr 21
allele count: 1
allele frequency: 8.398562166157153e-6
allele num: 119068
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.125C>T
  hgvsp: ENSP00000395751.1:p.Ser42Leu
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1502C>T
  hgvsp: ENSP00000312529.5:p.Ser501Leu
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1502C>T
  hgvsp: ENSP00000350497.4:p.Ser501Leu
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1502C>T
  hgvsp: ENSP00000300527.4:p.Ser501Leu
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1502C>T
  hgvsp: ENSP00000387115.1:p.Ser501Leu
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1502C>T
  hgvsp: ENSP00000380870.1:p.Ser501Leu
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17252
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37497
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser501Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/21-47541526-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541526
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541526
    reference: chr 21
allele count: 1
allele frequency: 8.414816809438059e-6
allele num: 118838
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.138C>A
  hgvsp: ENST00000413758.1:c.138C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1515C>A
  hgvsp: ENST00000409416.1:c.1515C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1515C>A
  hgvsp: ENST00000357838.4:c.1515C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1515C>A
  hgvsp: ENST00000310645.5:c.1515C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1515C>A
  hgvsp: ENST00000300527.4:c.1515C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1515C>A
  hgvsp: ENST00000397763.1:c.1515C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1493
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36952
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6402
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly505Gly
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

21-47541529-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541529
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541529
    reference: chr 21
allele count: 2
allele frequency: 1.684182161142549e-5
allele num: 118752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1518C>T
  hgvsp: ENST00000310645.5:c.1518C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.141C>T
  hgvsp: ENST00000413758.1:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1518C>T
  hgvsp: ENST00000397763.1:c.1518C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1518C>T
  hgvsp: ENST00000300527.4:c.1518C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1518C>T
  hgvsp: ENST00000409416.1:c.1518C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1518C>T
  hgvsp: ENST00000357838.4:c.1518C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6739
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6378
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1683
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro506Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

21-47541530-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541530
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541530
    reference: chr 21
allele count: 4
allele frequency: 3.368534519057484e-5
allele num: 118746
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1519A>G
  hgvsp: ENSP00000350497.4:p.Lys507Glu
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1519A>G
  hgvsp: ENSP00000380870.1:p.Lys507Glu
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1519A>G
  hgvsp: ENSP00000387115.1:p.Lys507Glu
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.142A>G
  hgvsp: ENSP00000395751.1:p.Lys48Glu
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1519A>G
  hgvsp: ENSP00000312529.5:p.Lys507Glu
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1519A>G
  hgvsp: ENSP00000300527.4:p.Lys507Glu
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys507Glu
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP

21-47541537-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541537
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541537
    reference: chr 21
allele count: 1
allele frequency: 8.442665856170744e-6
allele num: 118446
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.144+5G>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1521+5G>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1521+5G>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1521+5G>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1521+5G>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1521+5G>T
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36068
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1681
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
hgvs: c.1521+5G>T
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

21-47541537-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541537
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541537
    reference: chr 21
allele count: 2
allele frequency: 1.688533171234149e-5
allele num: 118446
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.144+5G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1521+5G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1521+5G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1521+5G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1521+5G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1521+5G>A
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24219
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1936
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6330
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 3.25e1
  variant carriers: 0
hgvs: c.1521+5G>A
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

21-47541542-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541542
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541542
    reference: chr 21
allele count: 1
allele frequency: 8.469121582709441e-6
allele num: 118076
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1521+10C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1521+10C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.144+10C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1521+10C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1521+10C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1521+10C>T
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34262
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

21-47541546-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541546
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541546
    reference: chr 21
allele count: 2
allele frequency: 1.697014950701716e-5
allele num: 117854
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1521+14C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1521+14C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1521+14C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.144+14C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1521+14C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1521+14C>T
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16832
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2431
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1670
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33592
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 420
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

21-47541548-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541548
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541548
    reference: chr 21
allele count: 1
allele frequency: 8.50152177239726e-6
allele num: 117626
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1521+16C>G
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1521+16C>G
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.144+16C>G
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1521+16C>G
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1521+16C>G
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1521+16C>G
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22020
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16828
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6971
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32923
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2340
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/21-47541549-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541549
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541549
    reference: chr 21
allele count: 2
allele frequency: 1.701172107582124e-5
allele num: 117566
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.144+17C>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1521+17C>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1521+17C>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1521+17C>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1521+17C>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1521+17C>A
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21745
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6091
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 32507
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

21-47541552-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541552
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541552
    reference: chr 21
allele count: 1
allele frequency: 8.528493697443158e-6
allele num: 117254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1521+20C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1521+20C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1521+20C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.144+20C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1521+20C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1521+20C>T
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7050
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20742
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3154
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31243
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1861
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2339
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6728
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP

21-47541553-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541553
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541553
    reference: chr 21
allele count: 14323
allele frequency: 1.227545423380185e-1
allele num: 116680
alternate allele: G
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1521+21A>G
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.144+21A>G
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1521+21A>G
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1521+21A>G
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1521+21A>G
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1521+21A>G
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 2.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 7012
  bin: 3.25e1
  variant carriers: 1794
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 1.75e1
  variant carriers: 632
genotype depth: GenotypeDepth
  all individuals: 14545
  bin: 2.75e1
  variant carriers: 1568
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 7.5e0
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 8.25e1
  variant carriers: 133
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 3.75e1
  variant carriers: 1668
genotype depth: GenotypeDepth
  all individuals: 2679
  bin: 4.25e1
  variant carriers: 1526
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 4459
  bin: 1.25e1
  variant carriers: 303
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 8.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 15969
  bin: 2.25e1
  variant carriers: 1169
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 6.25e1
  variant carriers: 476
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 5.75e1
  variant carriers: 726
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 9.75e1
  variant carriers: 365
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 4.75e1
  variant carriers: 1208
genotype depth: GenotypeDepth
  all individuals: 1625
  bin: 5.25e1
  variant carriers: 929
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 6.75e1
  variant carriers: 284
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.25e1
  variant carriers: 211
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 4.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 7.5e0
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 9.25e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 3.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 4.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 25051
  bin: 6.25e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 3519
  bin: 2.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 5.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 16
num of homozygotes: 1051
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS

21-47541557-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541557
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541557
    reference: chr 21
allele count: 10
allele frequency: 8.621730208818306e-5
allele num: 115986
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1521+25C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1521+25C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1521+25C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1521+25C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.144+25C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1521+25C>T
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17346
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15478
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8075
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31719
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5089
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5521
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5555
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

21-47541558-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541558
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541558
    reference: chr 21
allele count: 5
allele frequency: 4.32338953739732e-5
allele num: 115650
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1521+26G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1521+26G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1521+26G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.144+26G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1521+26G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1521+26G>A
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16466
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7751
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29511
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5611
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5260
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2708
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1696
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD

21-47541558-G-GTATT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541558
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541562
    reference: chr 21
allele count: 1
allele frequency: 8.64677907479464e-6
allele num: 115650
alternate allele: GTATT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1521+27_1521+30dupTATT
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1521+27_1521+30dupTATT
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.144+27_144+30dupTATT
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1521+27_1521+30dupTATT
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1521+27_1521+30dupTATT
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1521+27_1521+30dupTATT
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14432
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5611
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2708
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1696
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29511
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

21-47541559-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541559
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541559
    reference: chr 21
allele count: 8
allele frequency: 6.926406926406926e-5
allele num: 115500
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.144+27T>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1521+27T>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1521+27T>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1521+27T>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1521+27T>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1521+27T>C
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15921
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2506
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7565
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2068
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28011
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1737
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5891
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

21-47541562-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541562
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541561
    reference: chr 21
allele count: 1
allele frequency: 8.68704067272443e-6
allele num: 115114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1521+31delA
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.144+31delA
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1521+31delA
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1521+31delA
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1521+31delA
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1521+31delA
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9470
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14738
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4829
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5541
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1723
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2944
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2660
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6371
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: TA
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

21-47541564-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541564
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541564
    reference: chr 21
allele count: 21
allele frequency: 1.832332821443529e-4
allele num: 114608
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1521+32G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1521+32G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1521+32G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1521+32G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.144+32G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1521+32G>A
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10449
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8655
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10288
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6519
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13443
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6710
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20471
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3061
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4049
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

21-47541564-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541564
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541564
    reference: chr 21
allele count: 10
allele frequency: 8.72539438782633e-5
allele num: 114608
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.144+32G>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1521+32G>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1521+32G>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1521+32G>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1521+32G>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1521+32G>C
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6519
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8655
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13443
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2325
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10288
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4388
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20471
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6710
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3061
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1300
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4936
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

21-47541566-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541566
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541566
    reference: chr 21
allele count: 7
allele frequency: 6.116956202593589e-5
allele num: 114436
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1521+34G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1521+34G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1521+34G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1521+34G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1521+34G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.144+34G>A
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9918
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9518
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13023
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10678
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4417
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6815
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3171
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5174
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

21-47541567-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541567
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541567
    reference: chr 21
allele count: 73
allele frequency: 6.398793871182638e-4
allele num: 114084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1521+35G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1521+35G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1521+35G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1521+35G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.144+35G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1521+35G>A
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5810
  bin: 3.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9214
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 12183
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 11232
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 10857
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 982
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3338
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5541
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4012
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5046
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum

21-47541567-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541567
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541567
    reference: chr 21
allele count: 2
allele frequency: 1.753094211282914e-5
allele num: 114084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1521+35G>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1521+35G>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1521+35G>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.144+35G>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1521+35G>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1521+35G>T
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10857
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17075
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5598
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1938
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1679
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6803
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5046
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/21-47541570-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541570
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541570
    reference: chr 21
allele count: 3
allele frequency: 2.647370278856336e-5
allele num: 113320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1521+38C>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1521+38C>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1521+38C>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1521+38C>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1521+38C>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.144+38C>A
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11201
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13081
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10892
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5647
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3442
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5913
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15588
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5539
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6767
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

21-47541570-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541570
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541570
    reference: chr 21
allele count: 3
allele frequency: 2.647370278856336e-5
allele num: 113320
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1521+38C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1521+38C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1521+38C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1521+38C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1521+38C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.144+38C>T
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2027
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10892
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11201
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13081
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5647
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3442
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1277
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3679
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6767
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

21-47541571-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541571
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541571
    reference: chr 21
allele count: 7
allele frequency: 6.198530062870805e-5
allele num: 112930
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1521+39G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1521+39G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.144+39G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1521+39G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1521+39G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1521+39G>A
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10905
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10802
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8893
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13773
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3588
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5538
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14709
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5867
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6012
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3476
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

21-47541571-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541571
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541571
    reference: chr 21
allele count: 1
allele frequency: 8.855042946958292e-6
allele num: 112930
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1521+39G>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1521+39G>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.144+39G>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1521+39G>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1521+39G>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1521+39G>C
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13773
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10905
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5538
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2802
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6757
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5867
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3476
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP

21-47541579-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541579
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541579
    reference: chr 21
allele count: 1
allele frequency: 8.966036653157838e-6
allele num: 111532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1521+47T>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1521+47T>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1521+47T>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1521+47T>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.144+47T>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1521+47T>A
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1884
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11781
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14694
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9490
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6457
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3678
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5524
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3155
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6322
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6607
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4882
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3250
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

21-47541971-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541971
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541971
    reference: chr 21
allele count: 1
allele frequency: 8.821765058752955e-6
allele num: 113356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.145-51A>G
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1522-51A>G
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1522-51A>G
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1522-51A>G
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1522-51A>G
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1522-51A>G
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13917
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8040
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4489
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4235
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3497
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2632
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

21-47541972-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541972
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541972
    reference: chr 21
allele count: 1
allele frequency: 8.835327172165185e-6
allele num: 113182
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.145-50G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1522-50G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1522-50G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1522-50G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1522-50G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1522-50G>A
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8032
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10428
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2688
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4535
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3718
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4014
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4712
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5121
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3430
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14573
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum

21-47541972-G-GCCCCAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541972
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541978
    reference: chr 21
allele count: 3
allele frequency: 2.650598151649556e-5
allele num: 113182
alternate allele: GCCCCAC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1522-46_1522-41dupCACCCC
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1522-46_1522-41dupCACCCC
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.145-46_145-41dupCACCCC
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1522-46_1522-41dupCACCCC
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1522-46_1522-41dupCACCCC
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1522-46_1522-41dupCACCCC
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14026
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8032
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13185
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7277
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4014
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2688
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1446
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4535
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

21-47541973-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541973
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541973
    reference: chr 21
allele count: 1
allele frequency: 8.8386070355312e-6
allele num: 113140
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1522-49C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1522-49C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1522-49C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1522-49C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1522-49C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.145-49C>T
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12883
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8016
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3690
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4512
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3559
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7271
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4309
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1399
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/21-47541977-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541977
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541977
    reference: chr 21
allele count: 1
allele frequency: 8.804056909423863e-6
allele num: 113584
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.145-45A>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1522-45A>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1522-45A>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1522-45A>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1522-45A>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1522-45A>C
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15669
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3594
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4011
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2556
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3592
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18929
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2007
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

21-47541981-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541981
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541981
    reference: chr 21
allele count: 9
allele frequency: 7.913479293062516e-5
allele num: 113730
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1522-41C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1522-41C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.145-41C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1522-41C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1522-41C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1522-41C>T
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7682
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18074
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8315
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1433
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3724
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2163
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4146
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3425
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7278
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 3081
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

21-47541982-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541982
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541982
    reference: chr 21
allele count: 5
allele frequency: 4.391743522178305e-5
allele num: 113850
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.145-40G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1522-40G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1522-40G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1522-40G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1522-40G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1522-40G>A
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19102
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7261
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4250
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3816
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3732
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1816
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

21-47541985-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541985
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541985
    reference: chr 21
allele count: 1
allele frequency: 8.764702788928428e-6
allele num: 114094
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.145-37C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1522-37C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1522-37C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1522-37C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1522-37C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1522-37C>T
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4975
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12178
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6770
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2712
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3681
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2987
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4423
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1593
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7288
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

21-47541986-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541986
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541986
    reference: chr 21
allele count: 14292
allele frequency: 1.249016831838918e-1
allele num: 114426
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1522-36T>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1522-36T>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1522-36T>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1522-36T>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.145-36T>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1522-36T>C
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 1.75e1
  variant carriers: 1786
genotype depth: GenotypeDepth
  all individuals: 12454
  bin: 2.75e1
  variant carriers: 2447
genotype depth: GenotypeDepth
  all individuals: 4260
  bin: 3.25e1
  variant carriers: 1815
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 8.75e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 4.75e1
  variant carriers: 422
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 9.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 2.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.75e1
  variant carriers: 145
genotype depth: GenotypeDepth
  all individuals: 5685
  bin: 1.25e1
  variant carriers: 779
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 3.75e1
  variant carriers: 1178
genotype depth: GenotypeDepth
  all individuals: 20126
  bin: 2.25e1
  variant carriers: 2556
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 9.75e1
  variant carriers: 805
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 7.5e0
  variant carriers: 198
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 6.25e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 228
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 4.25e1
  variant carriers: 661
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 8.25e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 5.25e1
  variant carriers: 85
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 2.5e0
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 2.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 17699
  bin: 9.75e1
  variant carriers: 12350
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 8.25e1
  variant carriers: 116
genotype quality: GenotypeQuality
  all individuals: 2954
  bin: 2.25e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 5.75e1
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 7.5e0
  variant carriers: 20
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 8.75e1
  variant carriers: 74
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 7.75e1
  variant carriers: 94
num of homozygotes: 1031
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

21-47541991-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541991
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541991
    reference: chr 21
allele count: 4
allele frequency: 3.476628365810837e-5
allele num: 115054
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1522-31C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1522-31C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1522-31C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1522-31C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.145-31C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1522-31C>T
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14840
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22987
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4843
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3192
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33051
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1157
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

21-47541994-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47541994
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47541994
    reference: chr 21
allele count: 67
allele frequency: 5.814659885789666e-4
allele num: 115226
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.145-28T>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1522-28T>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1522-28T>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1522-28T>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1522-28T>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1522-28T>C
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4268
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24200
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15078
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34896
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1704
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

21-47542001-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47542001
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47542001
    reference: chr 21
allele count: 8
allele frequency: 6.918500069185e-5
allele num: 115632
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1522-21C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1522-21C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1522-21C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.145-21C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1522-21C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1522-21C>T
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15788
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1334
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25997
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3799
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4784
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37383
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

21-47542002-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47542002
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47542002
    reference: chr 21
allele count: 30
allele frequency: 2.591882224871702e-4
allele num: 115746
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.145-20G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1522-20G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1522-20G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1522-20G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1522-20G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1522-20G>A
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3818
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15937
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26213
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37860
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6856
  bin: 9.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2771
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD

21-47542004-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47542004
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47542004
    reference: chr 21
allele count: 3
allele frequency: 2.588795692243968e-5
allele num: 115884
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1522-18C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.145-18C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1522-18C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1522-18C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1522-18C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1522-18C>T
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26494
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16084
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38086
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum

21-47542009-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47542009
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47542009
    reference: chr 21
allele count: 2
allele frequency: 1.723009063027672e-5
allele num: 116076
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.145-13C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1522-13C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1522-13C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1522-13C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1522-13C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1522-13C>T
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1940
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4913
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2593
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

21-47542010-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47542010
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47542010
    reference: chr 21
allele count: 2
allele frequency: 1.721763085399449e-5
allele num: 116160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.145-12G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1522-12G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1522-12G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1522-12G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1522-12G>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1522-12G>A
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16477
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6829
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/21-47542013-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47542013
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47542013
    reference: chr 21
allele count: 4
allele frequency: 3.438907802881805e-5
allele num: 116316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1522-9C>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1522-9C>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1522-9C>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1522-9C>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.145-9C>A
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1522-9C>A
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27237
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1920
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4965
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39627
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2483
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

21-47542013-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47542013
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47542013
    reference: chr 21
allele count: 12
allele frequency: 1.031672340864541e-4
allele num: 116316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1522-9C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1522-9C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1522-9C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1522-9C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.145-9C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1522-9C>T
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3905
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27237
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16619
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39627
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4965
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

21-47542014-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47542014
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47542014
    reference: chr 21
allele count: 1
allele frequency: 8.594757198109153e-6
allele num: 116350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1522-8T>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1522-8T>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1522-8T>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1522-8T>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.145-8T>C
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1522-8T>C
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27265
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2469
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6827
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4997
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
hgvs: c.1522-8T>C
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

21-47542015-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 47542015
    reference: chr 21
  end: Position
    type: ExactPosition
    position: 47542015
    reference: chr 21
allele count: 3
allele frequency: 2.578382838283828e-5
allele num: 116352
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000300527
  ensembl transcript: ENST00000300527
  gene symbol: COL6A2
  hgvsc: ENST00000300527.4:c.1522-7C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000380870
  ensembl transcript: ENST00000397763
  gene symbol: COL6A2
  hgvsc: ENST00000397763.1:c.1522-7C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000350497
  ensembl transcript: ENST00000357838
  gene symbol: COL6A2
  hgvsc: ENST00000357838.4:c.1522-7C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000395751
  ensembl transcript: ENST00000413758
  gene symbol: COL6A2
  hgvsc: ENST00000413758.1:c.145-7C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000312529
  ensembl transcript: ENST00000310645
  gene symbol: COL6A2
  hgvsc: ENST00000310645.5:c.1522-7C>T
  variant of: http://identifiers.org/hgnc/2212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000142173
  ensembl protein: ENSP00000387115
  ensembl transcript: ENST00000409416
  gene symbol: COL6A2
  hgvsc: ENST00000409416.1:c.1522-7C>T
  variant of: http://identifiers.org/hgnc/2212
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27231
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16736
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 0
hgvs: c.1522-7C>T
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 609
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4454
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2526
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1911
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8066
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 362
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2259
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16252
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.031140441328109e-4
allele num: 9698
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63050
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.763e0

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.337e0

MQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

DP
type: SiteQuality
SIO_000300: 1.734914e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

QD
type: SiteQuality
SIO_000300: 1.075e1

GenotypeQuality
all individuals: 2341
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4565
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15508
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1635
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1905
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.585943103036098e-4
allele num: 8366
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9682
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5824
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63000
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.804e0

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

QD
type: SiteQuality
SIO_000300: 1.224e1

DP
type: SiteQuality
SIO_000300: 1.72992e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.59e-1

GenotypeQuality
all individuals: 2477
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2242
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1848
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1619
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 853
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11214
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.80884828083674e-4
allele num: 8318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5750
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62618
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

QD
type: SiteQuality
SIO_000300: 1.366e1

MQRankSum
type: SiteQuality
SIO_000300: 1.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.68e0

DP
type: SiteQuality
SIO_000300: 1.711937e6

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.051e0

GenotypeQuality
all individuals: 1301
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4317
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1820
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8060
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2464
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.83169592526977e-5
allele num: 62090
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5670
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16172
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11118
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.697762e6

VQSLOD
type: SiteQuality
SIO_000300: 8.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.694e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.24e-1

QD
type: SiteQuality
SIO_000300: 1.39e1

GenotypeQuality
all individuals: 25743
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1005
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1415
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1487
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1564
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16116
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.893632159373888e-5
allele num: 11244
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9748
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8400
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.499e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

DP
type: SiteQuality
SIO_000300: 1.645828e6

FS
type: SiteQuality
SIO_000300: 3.951e0

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

MQ
type: SiteQuality
SIO_000300: 5.889e1

VQSLOD
type: SiteQuality
SIO_000300: -1.283e0

GenotypeQuality
all individuals: 6751
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 630
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1520
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5880
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variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11272
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.569710859259724e-5
allele num: 63706
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

QD
type: SiteQuality
SIO_000300: 9.85e0

FS
type: SiteQuality
SIO_000300: 1.053e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.84e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.355e0

MQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

DP
type: SiteQuality
SIO_000300: 1.691455e6

GenotypeQuality
all individuals: 1023
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2236
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1639
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variant carriers: 0

GenotypeQuality
all individuals: 1525
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6170
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11276
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16158
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.567692983006208e-5
allele num: 63788
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.811e0

VQSLOD
type: SiteQuality
SIO_000300: -1.297e0

QD
type: SiteQuality
SIO_000300: 7.14e0

FS
type: SiteQuality
SIO_000300: 8.625e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.992e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

MQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

DP
type: SiteQuality
SIO_000300: 1.70349e6

GenotypeQuality
all individuals: 299
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
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variant carriers: 0

GenotypeQuality
all individuals: 228
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6757
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variant carriers: 1

GenotypeQuality
all individuals: 1031
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9824
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63994
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.169792694965449e-5
allele num: 16208
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.655e0

VQSLOD
type: SiteQuality
SIO_000300: -4.176e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.64e-1

MQ
type: SiteQuality
SIO_000300: 5.325e1

FS
type: SiteQuality
SIO_000300: 1.342e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.23e-1

QD
type: SiteQuality
SIO_000300: 2.34e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

DP
type: SiteQuality
SIO_000300: 1.718191e6

GenotypeQuality
all individuals: 409
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1677
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variant carriers: 0

GenotypeQuality
all individuals: 36320
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variant carriers: 0

GenotypeQuality
all individuals: 1287
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6304
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16352
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 8.183306055646482e-4
allele num: 8554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9950
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.54e-1

FS
type: SiteQuality
SIO_000300: 4.471e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.696e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

DP
type: SiteQuality
SIO_000300: 1.753514e6

QD
type: SiteQuality
SIO_000300: 1.044e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1039
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2399
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1681
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9972
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.547460617127294e-5
allele num: 64622
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.13e-1

DP
type: SiteQuality
SIO_000300: 1.75729e6

QD
type: SiteQuality
SIO_000300: 1.081e1

MQRankSum
type: SiteQuality
SIO_000300: 8.139999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.97e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 114
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GenotypeQuality
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variant carriers: 28

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 140
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variant carriers: 0

GenotypeQuality
all individuals: 37002
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64762
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 29
allele frequency: 1.767861497195806e-3
allele num: 16404
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10002
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.224e1

DP
type: SiteQuality
SIO_000300: 1.764076e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.93e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-2

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

FS
type: SiteQuality
SIO_000300: 1.162e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 6391
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6350
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10018
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.712954678678309e-5
allele num: 64826
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.764483e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.937e1

QD
type: SiteQuality
SIO_000300: 1.312e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.32e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538650910881339e-5
allele num: 64992
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.1e-2

DP
type: SiteQuality
SIO_000300: 1.769605e6

FS
type: SiteQuality
SIO_000300: 2.551e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

QD
type: SiteQuality
SIO_000300: 1.232e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.360000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.19e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 802
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GenotypeQuality
all individuals: 6758
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2435
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536523155403952e-5
allele num: 65082
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10080
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.934e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.509e0

VQSLOD
type: SiteQuality
SIO_000300: -3.548e-1

DP
type: SiteQuality
SIO_000300: 1.772868e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.58e0

QD
type: SiteQuality
SIO_000300: 1.654e1

GenotypeQuality
all individuals: 131
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6758
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1688
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10076
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6380
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.070908207867897e-5
allele num: 16472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536051119781266e-5
allele num: 65102
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

QD
type: SiteQuality
SIO_000300: 1.243e1

FS
type: SiteQuality
SIO_000300: 7.628e0

MQRankSum
type: SiteQuality
SIO_000300: 7.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.13e-1

DP
type: SiteQuality
SIO_000300: 1.774212e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.57e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

VQSLOD
type: SiteQuality
SIO_000300: 3.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.88e-1

GenotypeQuality
all individuals: 1685
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 4.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.214034235765449e-4
allele num: 16474
num of homozygotes: 0

Latino
type: Population
allele count: 20
allele frequency: 1.750700280112045e-3
allele num: 11424
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 2.149811123736986e-4
allele num: 65122
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.15473441108545e-3
allele num: 866
num of homozygotes: 0

African
type: Population
allele count: 192
allele frequency: 1.902497027348395e-2
allele num: 10092
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6388
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.279e1

MQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

DP
type: SiteQuality
SIO_000300: 1.782272e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.22e-1

GenotypeQuality
all individuals: 374
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 1048
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2440
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variant carriers: 0

GenotypeQuality
all individuals: 71
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variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10098
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65180
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21300339640951e-4
allele num: 16488
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.065e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

DP
type: SiteQuality
SIO_000300: 1.777182e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.09e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 1.34e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.2e-1

GenotypeQuality
all individuals: 1697
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37743
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 80
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variant carriers: 0

GenotypeQuality
all individuals: 2433
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 1047
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533695285420693e-5
allele num: 65202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10098
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-1

MQ
type: SiteQuality
SIO_000300: 5.91e1

DP
type: SiteQuality
SIO_000300: 1.777976e6

QD
type: SiteQuality
SIO_000300: 9.529999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -3.511e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

FS
type: SiteQuality
SIO_000300: 2.513e0

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.79e-1

GenotypeQuality
all individuals: 712
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6736
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 752
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2431
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1995
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variant carriers: 0

GenotypeQuality
all individuals: 1700
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10094
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.212709192335678e-4
allele num: 16492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65214
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

DP
type: SiteQuality
SIO_000300: 1.77816e6

FS
type: SiteQuality
SIO_000300: 1.927e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

QD
type: SiteQuality
SIO_000300: 1.307e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.693e0

GenotypeQuality
all individuals: 1987
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
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variant carriers: 0

GenotypeQuality
all individuals: 41
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variant carriers: 0

GenotypeQuality
all individuals: 103
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variant carriers: 0

GenotypeQuality
all individuals: 751
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6490
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.067108330266225e-5
allele num: 65208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
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: 872
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.21e-1

DP
type: SiteQuality
SIO_000300: 1.778684e6

FS
type: SiteQuality
SIO_000300: 6.094e0

QD
type: SiteQuality
SIO_000300: 9.460000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -7.88e-2

GenotypeQuality
all individuals: 101
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 375
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 751
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GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10098
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.738203425375742e-5
allele num: 11444
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65228
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.313e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.75e-1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.53e-1

DP
type: SiteQuality
SIO_000300: 1.778789e6

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 41

GenotypeQuality
all individuals: 375
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

East Asian
type: Population
allele count: 41
allele frequency: 4.767441860465117e-3
allele num: 8600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532707988474036e-5
allele num: 65244
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.36e0

DP
type: SiteQuality
SIO_000300: 1.781346e6

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

QD
type: SiteQuality
SIO_000300: 8.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.536e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 27
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 56
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variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53275497378989e-5
allele num: 65242
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10104
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.78e-1

QD
type: SiteQuality
SIO_000300: 9.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 2.799e0

VQSLOD
type: SiteQuality
SIO_000300: 4.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 1.779549e6

MQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

GenotypeQuality
all individuals: 1690
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
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variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6734
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variant carriers: 1

GenotypeQuality
all individuals: 1044
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variant carriers: 0

GenotypeQuality
all individuals: 18
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GenotypeQuality
all individuals: 19
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variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 2433
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53298994358597e-5
allele num: 65232
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10100
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.066e1

FS
type: SiteQuality
SIO_000300: 3.744e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e-1

DP
type: SiteQuality
SIO_000300: 1.77947e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.32e-1

GenotypeQuality
all individuals: 2435
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1967
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variant carriers: 0

GenotypeQuality
all individuals: 6736
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 88
bin: 2.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.979022362952701e-4
allele num: 10106
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532848953064165e-5
allele num: 65238
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.779581e6

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

VQSLOD
type: SiteQuality
SIO_000300: 7.81e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

FS
type: SiteQuality
SIO_000300: 3.206e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.235e0

QD
type: SiteQuality
SIO_000300: 9.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e-2

GenotypeQuality
all individuals: 1970
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 16
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GenotypeQuality
all individuals: 1693
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533460099368214e-5
allele num: 65212
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10092
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.326e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.769e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.9e-2

DP
type: SiteQuality
SIO_000300: 1.77822e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.63e-1

FS
type: SiteQuality
SIO_000300: 1.72e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

QD
type: SiteQuality
SIO_000300: 1.116e1

GenotypeQuality
all individuals: 1968
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6476
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2428
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 134
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variant carriers: 0

GenotypeQuality
all individuals: 6737
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variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534401276621862e-5
allele num: 65172
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

DP
type: SiteQuality
SIO_000300: 1.776149e6

VQSLOD
type: SiteQuality
SIO_000300: 1.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.842e0

MQRankSum
type: SiteQuality
SIO_000300: 3.66e-1

QD
type: SiteQuality
SIO_000300: 8.609999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

GenotypeQuality
all individuals: 142
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 117
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variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10040
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536995481233285e-5
allele num: 65062
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.16e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

FS
type: SiteQuality
SIO_000300: 2.354e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

QD
type: SiteQuality
SIO_000300: 1.116e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

DP
type: SiteQuality
SIO_000300: 1.769883e6

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
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variant carriers: 0

GenotypeQuality
all individuals: 42
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GenotypeQuality
all individuals: 36866
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1944
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GenotypeQuality
all individuals: 2401
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variant carriers: 0

GenotypeQuality
all individuals: 79
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variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6348
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.984025559105431e-5
allele num: 10016
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538130248869474e-5
allele num: 65014
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.92e-1

QD
type: SiteQuality
SIO_000300: 9.73e0

DP
type: SiteQuality
SIO_000300: 1.767577e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.03e-1

FS
type: SiteQuality
SIO_000300: 8.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.362e0

GenotypeQuality
all individuals: 36799
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 4

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10016
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6352
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European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.153088850603002e-5
allele num: 65008
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.3e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e-1

QD
type: SiteQuality
SIO_000300: 1.054e1

FS
type: SiteQuality
SIO_000300: 1.533e0

DP
type: SiteQuality
SIO_000300: 1.766622e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1040
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6312
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64850
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
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Latino
type: Population
allele count: 1
allele frequency: 8.751969193068441e-5
allele num: 11426
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.04e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

DP
type: SiteQuality
SIO_000300: 1.758718e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.123e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.24e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.929e1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.236e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6312
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.008032128514056e-4
allele num: 9960
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64850
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11426
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.24e-1

DP
type: SiteQuality
SIO_000300: 1.758718e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 4.04e-1

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 528
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6268
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64686
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 858
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9902
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Latino
type: Population
allele count: 1
allele frequency: 8.773469029654326e-5
allele num: 11398
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

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

FS
type: SiteQuality
SIO_000300: 1.095e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.74626e6

MQ
type: SiteQuality
SIO_000300: 5.905e1

GenotypeQuality
all individuals: 581
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1906
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variant carriers: 0

GenotypeQuality
all individuals: 6738
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.09731772285201e-5
allele num: 64572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6238
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9874
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.521e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.648e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.86e-1

DP
type: SiteQuality
SIO_000300: 1.742177e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.8e-2

QD
type: SiteQuality
SIO_000300: 1.23e1

GenotypeQuality
all individuals: 2648
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 916
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6094
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6737
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1668
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1036
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552072016141549e-5
allele num: 64430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6226
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9848
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

DP
type: SiteQuality
SIO_000300: 1.736877e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.391e0

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.775e0

VQSLOD
type: SiteQuality
SIO_000300: 2.44e0

QD
type: SiteQuality
SIO_000300: 1.477e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e-1

GenotypeQuality
all individuals: 6734
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1668
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2767
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 749
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 733
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9836
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.105590062111801e-5
allele num: 64400
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6216
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.087e0

DP
type: SiteQuality
SIO_000300: 1.734357e6

QD
type: SiteQuality
SIO_000300: 7.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

GenotypeQuality
all individuals: 716
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5984
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6162
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556420233463035e-5
allele num: 64250
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.749e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.35e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.553e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

QD
type: SiteQuality
SIO_000300: 4.32e0

DP
type: SiteQuality
SIO_000300: 1.726486e6

GenotypeQuality
all individuals: 459
bin: 8.75e1
variant carriers: 42

GenotypeQuality
all individuals: 426
bin: 5.25e1
variant carriers: 34

GenotypeQuality
all individuals: 990
bin: 8.25e1
variant carriers: 80

GenotypeQuality
all individuals: 4144
bin: 6.75e1
variant carriers: 73

GenotypeQuality
all individuals: 1127
bin: 7.25e1
variant carriers: 49

GenotypeQuality
all individuals: 17175
bin: 9.75e1
variant carriers: 12698

GenotypeQuality
all individuals: 1415
bin: 7.75e1
variant carriers: 63

GenotypeQuality
all individuals: 1075
bin: 2.75e1
variant carriers: 19

GenotypeQuality
all individuals: 824
bin: 3.75e1
variant carriers: 26

European (Finnish)
type: Population
allele count: 377
allele frequency: 6.170212765957447e-2
allele num: 6110
num of homozygotes: 11

South Asian
type: Population
allele count: 1263
allele frequency: 7.753222836095765e-2
allele num: 16290
num of homozygotes: 62

African
type: Population
allele count: 511
allele frequency: 5.248562037797864e-2
allele num: 9736
num of homozygotes: 15

Latino
type: Population
allele count: 691
allele frequency: 6.105318960947164e-2
allele num: 11318
num of homozygotes: 33

Other
type: Population
allele count: 109
allele frequency: 1.282352941176471e-1
allele num: 850
num of homozygotes: 5

East Asian
type: Population
allele count: 225
allele frequency: 2.654554034922133e-2
allele num: 8476
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 11147
allele frequency: 1.744444444444445e-1
allele num: 63900
num of homozygotes: 922

VQSLOD
type: SiteQuality
SIO_000300: 4.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.11e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

DP
type: SiteQuality
SIO_000300: 1.843031e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.36e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.5e1

MQRankSum
type: SiteQuality
SIO_000300: 7.7e-2

FS
type: SiteQuality
SIO_000300: 7.89e-1

GenotypeQuality
all individuals: 2091
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1452
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1233
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.458948164964057e-5
allele num: 63432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6072
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.868393047179851e-5
allele num: 11276
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.032204789430223e-4
allele num: 9688
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.233654083395016e-4
allele num: 16212
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.62e-1

DP
type: SiteQuality
SIO_000300: 1.642306e6

VQSLOD
type: SiteQuality
SIO_000300: 2.11e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.003e1

GenotypeQuality
all individuals: 459
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1181
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1742
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5549
bin: 9.75e1
variant carriers: 5

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6048
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16196
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.557874762808349e-4
allele num: 8432
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11248
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.035840066293764e-4
allele num: 9654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.581477732793522e-5
allele num: 63232
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.552e0

DP
type: SiteQuality
SIO_000300: 1.615093e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

FS
type: SiteQuality
SIO_000300: 5.41e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.285e1

GenotypeQuality
all individuals: 542
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5260
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 827
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1742
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5549
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 459
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11248
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6048
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.581477732793522e-5
allele num: 63232
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16196
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.615093e6

QD
type: SiteQuality
SIO_000300: 1.285e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.552e0

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

FS
type: SiteQuality
SIO_000300: 5.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.29e-1

GenotypeQuality
all individuals: 610
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5154
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5548
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 119
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11248
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.167664480978175e-5
allele num: 63138
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.704161007531794e-4
allele num: 16198
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

DP
type: SiteQuality
SIO_000300: 1.597942e6

VQSLOD
type: SiteQuality
SIO_000300: 3.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e-2

FS
type: SiteQuality
SIO_000300: 9.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.16e0

QD
type: SiteQuality
SIO_000300: 1.391e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

GenotypeQuality
all individuals: 824
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3998
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1390
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24721
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16160
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6022
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9562
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.191043353978085e-4
allele num: 8396
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.809e1

VQSLOD
type: SiteQuality
SIO_000300: 4.51e0

MQ
type: SiteQuality
SIO_000300: 6.079e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

DP
type: SiteQuality
SIO_000300: 1.561067e6

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.34e0

GenotypeQuality
all individuals: 1349
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4388
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5565
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 822
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4936
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8366
num of homozygotes: 0

African
type: Population
allele count: 21
allele frequency: 2.205882352941176e-3
allele num: 9520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16138
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5980
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11194
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.402e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

FS
type: SiteQuality
SIO_000300: 9.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.18e0

DP
type: SiteQuality
SIO_000300: 1.520884e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.81e-1

GenotypeQuality
all individuals: 4049
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1703
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5565
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 827
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9520
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.976571838393497e-4
allele num: 8366
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.201923076923077e-3
allele num: 832
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5980
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62578
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.478621886231255e-4
allele num: 16138
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.64e-1

FS
type: SiteQuality
SIO_000300: 9.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.520884e6

QD
type: SiteQuality
SIO_000300: 1.402e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.01e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.81e-1

GenotypeQuality
all individuals: 5544
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1528
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4325
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 762
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1695
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5956
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8362
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 7.360672975814932e-4
allele num: 9510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62468
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.506047e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

QD
type: SiteQuality
SIO_000300: 1.503e1

FS
type: SiteQuality
SIO_000300: 2.0245e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.833e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.900000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

GenotypeQuality
all individuals: 6803
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 287
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1165
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17075
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1938
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5598
bin: 9.75e1
variant carriers: 72

GenotypeQuality
all individuals: 1679
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 70
allele frequency: 8.401344215074411e-3
allele num: 8332
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.96700143472023e-5
allele num: 11152
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.204819277108434e-3
allele num: 830
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62284
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.215040397762585e-5
allele num: 16090
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5920
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 3.533e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.8e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

QD
type: SiteQuality
SIO_000300: 1.299e1

DP
type: SiteQuality
SIO_000300: 1.484804e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

GenotypeQuality
all individuals: 535
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1059
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4012
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5541
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3338
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 982
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11152
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5920
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62284
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.243008079552517e-4
allele num: 16090
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.299e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.8e0

FS
type: SiteQuality
SIO_000300: 3.533e0

DP
type: SiteQuality
SIO_000300: 1.484804e6

VQSLOD
type: SiteQuality
SIO_000300: 2.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

GenotypeQuality
all individuals: 493
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3679
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2331
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2514
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1277
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 422
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.853897679836909e-5
allele num: 61806
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5872
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16050
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11102
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8278
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.185e0

VQSLOD
type: SiteQuality
SIO_000300: 4.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

DP
type: SiteQuality
SIO_000300: 1.456792e6

MQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

QD
type: SiteQuality
SIO_000300: 1.509e1

GenotypeQuality
all individuals: 1084
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2331
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5913
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2514
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5539
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 536
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15588
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.61796589327897e-5
allele num: 61806
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16050
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.130379207498935e-4
allele num: 9388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11102
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8278
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5872
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.185e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.509e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

DP
type: SiteQuality
SIO_000300: 1.456792e6

MQRankSum
type: SiteQuality
SIO_000300: 8.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.7e-1

GenotypeQuality
all individuals: 2500
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6757
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2802
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1106
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1157
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.023641941887746e-5
allele num: 11082
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.623376623376623e-5
allele num: 61600
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.250781347668459e-5
allele num: 15998
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8238
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.276245456489202e-4
allele num: 9354
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5836
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

QD
type: SiteQuality
SIO_000300: 1.451e1

DP
type: SiteQuality
SIO_000300: 1.445881e6

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

MQRankSum
type: SiteQuality
SIO_000300: 1.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.98e-1

FS
type: SiteQuality
SIO_000300: 2.655e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.589e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

GenotypeQuality
all individuals: 1106
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6012
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14709
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1157
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 820
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2500
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3588
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11082
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5836
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61600
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 822
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.213886865744113e-4
allele num: 8238
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15998
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.589e0

QD
type: SiteQuality
SIO_000300: 1.451e1

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

FS
type: SiteQuality
SIO_000300: 2.655e0

DP
type: SiteQuality
SIO_000300: 1.445881e6

GenotypeQuality
all individuals: 1206
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1591
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1166
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2524
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5754
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10966
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60814
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9184
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8128
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.297229219143577e-5
allele num: 15880
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.477e1

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

DP
type: SiteQuality
SIO_000300: 1.398223e6

GenotypeQuality
all individuals: 5008
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1298
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15624
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2088
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3684
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7285
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 514
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5366
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.087604507451835e-5
allele num: 11004
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15702
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 1.60057e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.203e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.68e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.107e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.08e-1

GenotypeQuality
all individuals: 503
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1446
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2134
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7277
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1306
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11012
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.60199929512031e-5
allele num: 62422
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5336
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15674
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.623e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.75e-1

DP
type: SiteQuality
SIO_000300: 1.600269e6

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

FS
type: SiteQuality
SIO_000300: 1.635e0

QD
type: SiteQuality
SIO_000300: 7.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.93e-1

GenotypeQuality
all individuals: 3718
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14573
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1306
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3430
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5121
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4712
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.051524710830704e-4
allele num: 9510
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11012
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.203998590240621e-5
allele num: 62422
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

FS
type: SiteQuality
SIO_000300: 1.635e0

DP
type: SiteQuality
SIO_000300: 1.600269e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.93e-1

QD
type: SiteQuality
SIO_000300: 7.37e0

MQRankSum
type: SiteQuality
SIO_000300: -6.8e-1

MQ
type: SiteQuality
SIO_000300: 5.623e1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

GenotypeQuality
all individuals: 352
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 908
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1282
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15989
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5079
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2647
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4015
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.379992344009187e-5
allele num: 15674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5332
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62382
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9488
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11022
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.602465e6

MQRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.27e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

VQSLOD
type: SiteQuality
SIO_000300: -2.14e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.369e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 2.959e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.52e-1

QD
type: SiteQuality
SIO_000300: 1.38e1

GenotypeQuality
all individuals: 7273
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 514
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4402
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1375
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4561
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2801
bin: 5.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5344
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15718
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11074
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.595048968003318e-5
allele num: 62694
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.613469e6

QD
type: SiteQuality
SIO_000300: 1.011e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.53e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQRankSum
type: SiteQuality
SIO_000300: -2.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.899e1

GenotypeQuality
all individuals: 22985
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1359
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 511
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4051
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1252
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.593320799209713e-5
allele num: 62762
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.290626965820927e-4
allele num: 9538
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11092
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.270163851136797e-4
allele num: 15746
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5360
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.67e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.55e-1

QD
type: SiteQuality
SIO_000300: 1.255e1

DP
type: SiteQuality
SIO_000300: 1.635694e6

FS
type: SiteQuality
SIO_000300: 4.276e0

MQRankSum
type: SiteQuality
SIO_000300: 3.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.39e-1

GenotypeQuality
all individuals: 356
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7283
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 884
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1379
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3322
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24804
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.183496752833312e-5
allele num: 62824
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.363507445048452e-4
allele num: 8462
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11098
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5390
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.354047528275512e-5
allele num: 15738
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.083e1

FS
type: SiteQuality
SIO_000300: 6.982e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.643989e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-2

GenotypeQuality
all individuals: 27890
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3112
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1319
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1433
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62962
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5414
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11106
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.343567622430856e-5
allele num: 15764
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9570
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.576e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 1.665177e6

FS
type: SiteQuality
SIO_000300: 2.404e0

VQSLOD
type: SiteQuality
SIO_000300: 2.37e-1

QD
type: SiteQuality
SIO_000300: 1.671e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

GenotypeQuality
all individuals: 174
bin: 1.25e1
variant carriers: 19

GenotypeQuality
all individuals: 2208
bin: 3.75e1
variant carriers: 54

GenotypeQuality
all individuals: 960
bin: 4.25e1
variant carriers: 38

GenotypeQuality
all individuals: 333
bin: 9.25e1
variant carriers: 110

GenotypeQuality
all individuals: 1079
bin: 4.75e1
variant carriers: 85

GenotypeQuality
all individuals: 2191
bin: 3.25e1
variant carriers: 43

GenotypeQuality
all individuals: 805
bin: 7.25e1
variant carriers: 66

GenotypeQuality
all individuals: 3144
bin: 6.75e1
variant carriers: 118

GenotypeQuality
all individuals: 24231
bin: 6.25e1
variant carriers: 88

South Asian
type: Population
allele count: 1245
allele frequency: 7.863820111167256e-2
allele num: 15832
num of homozygotes: 60

Latino
type: Population
allele count: 682
allele frequency: 6.137508999280058e-2
allele num: 11112
num of homozygotes: 31

Other
type: Population
allele count: 99
allele frequency: 1.225247524752475e-1
allele num: 808
num of homozygotes: 4

East Asian
type: Population
allele count: 224
allele frequency: 2.641509433962264e-2
allele num: 8480
num of homozygotes: 2

European (Non-Finnish)
type: Population
allele count: 11011
allele frequency: 1.743791967566198e-1
allele num: 63144
num of homozygotes: 905

European (Finnish)
type: Population
allele count: 344
allele frequency: 6.321205439176773e-2
allele num: 5442
num of homozygotes: 9

African
type: Population
allele count: 687
allele frequency: 7.150291423813489e-2
allele num: 9608
num of homozygotes: 20

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.93e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.07e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.61e-1

DP
type: SiteQuality
SIO_000300: 1.767741e6

QD
type: SiteQuality
SIO_000300: 1.519e1

GenotypeQuality
all individuals: 1914
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1159
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6838
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 4618
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9658
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.288714901109958e-5
allele num: 63606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15846
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.703549e6

MQ
type: SiteQuality
SIO_000300: 5.983e1

FS
type: SiteQuality
SIO_000300: 1.0602e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

QD
type: SiteQuality
SIO_000300: 1.075e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.92e-1

GenotypeQuality
all individuals: 232
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6890
bin: 9.75e1
variant carriers: 67

GenotypeQuality
all individuals: 4676
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.138534931893792e-5
allele num: 63724
num of homozygotes: 0

East Asian
type: Population
allele count: 65
allele frequency: 7.632691404415219e-3
allele num: 8516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5488
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11162
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9670
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.942e0

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.43e0

DP
type: SiteQuality
SIO_000300: 1.715603e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.19e-1

QD
type: SiteQuality
SIO_000300: 1.207e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1172
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1141
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2809
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1159
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6833
bin: 9.75e1
variant carriers: 8

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

African
type: Population
allele count: 1
allele frequency: 1.02880658436214e-4
allele num: 9720
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564749327157789e-5
allele num: 63908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5550
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.351409204423831e-4
allele num: 11212
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15900
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.83e0

QD
type: SiteQuality
SIO_000300: 8.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.78e-1

DP
type: SiteQuality
SIO_000300: 1.741448e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.89e-1

GenotypeQuality
all individuals: 325
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 258
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4821
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1145
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.91583452211127e-5
allele num: 11216
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.283775292195552e-5
allele num: 15914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5570
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.027115858668858e-4
allele num: 9736
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 4.221784407542922e-4
allele num: 63954
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 7.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: 3.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

FS
type: SiteQuality
SIO_000300: 5.7e-1

DP
type: SiteQuality
SIO_000300: 1.746253e6

QD
type: SiteQuality
SIO_000300: 1.272e1

GenotypeQuality
all individuals: 714
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2706
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4888
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6830
bin: 9.75e1
variant carriers: 3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15934
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5592
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.670940170940171e-4
allele num: 11232
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9756
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64006
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.808e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 1.0819e1

DP
type: SiteQuality
SIO_000300: 1.749551e6

QD
type: SiteQuality
SIO_000300: 1.594e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.27e-1

GenotypeQuality
all individuals: 427
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1199
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1162
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6831
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 245
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38916
bin: 6.25e1
variant carriers: 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: 2
allele frequency: 3.120124804992199e-5
allele num: 64100
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15958
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9774
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11250
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -7.81e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

VQSLOD
type: SiteQuality
SIO_000300: -1.507e-1

DP
type: SiteQuality
SIO_000300: 1.759237e6

QD
type: SiteQuality
SIO_000300: 1.13e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 9.227e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.332e0

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

GenotypeQuality
all individuals: 427
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4946
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39246
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.118081756103645e-5
allele num: 64142
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15958
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

FS
type: SiteQuality
SIO_000300: 8.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

DP
type: SiteQuality
SIO_000300: 1.761882e6

QD
type: SiteQuality
SIO_000300: 1.5e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

GenotypeQuality
all individuals: 50
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6839
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 248
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1216
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1173
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 7.5e0
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15968
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.227425582264292e-5
allele num: 64232
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

DP
type: SiteQuality
SIO_000300: 1.766516e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

FS
type: SiteQuality
SIO_000300: 3.37e0

QD
type: SiteQuality
SIO_000300: 1.122e1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.29e-1

GenotypeQuality
all individuals: 2483
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1216
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1173
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6839
bin: 9.75e1
variant carriers: 12

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.223990208078335e-3
allele num: 9804
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64232
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15968
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11274
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.122e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.82e-1

DP
type: SiteQuality
SIO_000300: 1.766516e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e-1

FS
type: SiteQuality
SIO_000300: 3.37e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

GenotypeQuality
all individuals: 377
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 165
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39699
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 189
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1222
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64242
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9812
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.258605582676179e-5
allele num: 15978
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11268
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.37e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

FS
type: SiteQuality
SIO_000300: 2.521e0

MQRankSum
type: SiteQuality
SIO_000300: 9.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.254e-1

DP
type: SiteQuality
SIO_000300: 1.767027e6

QD
type: SiteQuality
SIO_000300: 1.507e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.79e-1