2-189871716-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189871716
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189871716
    reference: chr 2
allele count: 1
allele frequency: 8.307027745472669e-6
allele num: 120380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-1062T>C
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3255T>C
  hgvsp: ENST00000304636.3:c.3255T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
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genotype quality: GenotypeQuality
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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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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 444
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9144
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30593
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10936
  bin: 6.75e1
  variant carriers: 0
hgvs: c.3255T>C
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8600
  num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

2-189871723-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189871723
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189871723
    reference: chr 2
allele count: 1
allele frequency: 8.39390937935434e-6
allele num: 119134
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3255+7T>G
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-1055T>G
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
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genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 5.25e1
  variant carriers: 0
hgvs: c.3255+7T>G
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.527417137620284e-5
  allele num: 65470
  num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

2-189871730-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189871730
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189871730
    reference: chr 2
allele count: 5
allele frequency: 4.228544365887487e-5
allele num: 118244
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-1048T>G
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3255+14T>G
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  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: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 580
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 5
  allele frequency: 3.092911047878263e-4
  allele num: 16166
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS

2-189871734-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189871734
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189871734
    reference: chr 2
allele count: 1
allele frequency: 8.501810885718658e-6
allele num: 117622
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3255+18T>G
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-1044T>G
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16124
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

2-189871736-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189871736
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189871736
    reference: chr 2
allele count: 2
allele frequency: 1.702620332692013e-5
allele num: 117466
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-1042G>T
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3255+20G>T
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10000
  num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
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site quality: DP

2-189871740-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189871740
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189871740
    reference: chr 2
allele count: 1
allele frequency: 8.56971462850287e-6
allele num: 116690
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-1038T>G
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3255+24T>G
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.926977325477593e-5
  allele num: 11202
  num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
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site quality: FS
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2-189871741-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189871741
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189871741
    reference: chr 2
allele count: 1
allele frequency: 8.571330613364419e-6
allele num: 116668
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3255+25T>A
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-1037T>A
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
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  allele num: 11198
  num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ

2-189871744-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189871744
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189871744
    reference: chr 2
allele count: 1
allele frequency: 8.60303859323113e-6
allele num: 116238
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3255+28T>A
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-1034T>A
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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num of homozygotes: 0
population: South Asian
  type: Population
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  allele num: 16016
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
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2-189871746-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189871746
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189871746
    reference: chr 2
allele count: 1
allele frequency: 8.620392400262059e-6
allele num: 116004
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3255+30T>G
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-1032T>G
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2980
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 9108
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1411
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 7369
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8114
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

2-189871751-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189871751
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189871751
    reference: chr 2
allele count: 1
allele frequency: 8.689305203155955e-6
allele num: 115084
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-1027T>G
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3255+35T>G
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7994
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-189871755-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189871755
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189871755
    reference: chr 2
allele count: 2
allele frequency: 1.768534238822864e-5
allele num: 113088
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-1023C>A
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3255+39C>A
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 586
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6384
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

2-189871761-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189871761
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189871761
    reference: chr 2
allele count: 9
allele frequency: 7.958967102935975e-5
allele num: 113080
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-1017T>C
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3255+45T>C
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6392
  num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-189871763-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189871763
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189871763
    reference: chr 2
allele count: 2
allele frequency: 1.787150388705209e-5
allele num: 111910
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3255+47A>G
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-1015A>G
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9087
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5057
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9486
  num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

2-189871765-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189871765
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189871765
    reference: chr 2
allele count: 1
allele frequency: 8.979723783696414e-6
allele num: 111362
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3255+49C>T
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-1013C>T
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15330
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2255
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
  all individuals: 6664
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 834
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

2-189872179-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872179
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872179
    reference: chr 2
allele count: 31
allele frequency: 8.227612930622644e-4
allele num: 37678
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3256-47A>G
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-599A>G
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
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genotype depth: GenotypeDepth
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  variant carriers: 20
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 26
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 3
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3182
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

2-189872188-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872188
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872188
    reference: chr 2
allele count: 6
allele frequency: 1.466419004790302e-4
allele num: 40916
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3256-38G>A
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-590G>A
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32086
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 140
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1566
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

2-189872198-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872198
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872198
    reference: chr 2
allele count: 534
allele frequency: 1.115754283326368e-2
allele num: 47860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-580G>A
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3256-28G>A
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 3.25e1
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genotype depth: GenotypeDepth
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  all individuals: 142
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: African
  type: Population
  allele count: 12
  allele frequency: 2.61437908496732e-3
  allele num: 4590
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-189872205-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872205
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872205
    reference: chr 2
allele count: 1
allele frequency: 1.805510417795111e-5
allele num: 55386
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-573A>C
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3256-21A>C
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6045
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 999
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4176
  num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

2-189872213-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872213
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872213
    reference: chr 2
allele count: 1
allele frequency: 1.504483360414034e-5
allele num: 66468
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3256-13T>C
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-565T>C
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 35952
  num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

2-189872214-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872214
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872214
    reference: chr 2
allele count: 9
allele frequency: 1.328570163266511e-4
allele num: 67742
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3256-12A>G
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-564A>G
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25773
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20417
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 550
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 8
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4046
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

2-189872242-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872242
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872242
    reference: chr 2
allele count: 1
allele frequency: 9.476157986505951e-6
allele num: 105528
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3272G>A
  hgvsp: ENSP00000304408.3:p.Arg1091His
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-536G>A
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 413
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  variant carriers: 0
hgvs: p.Arg1091His
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8984
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

2-189872258-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872258
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872258
    reference: chr 2
allele count: 1
allele frequency: 9.163215188945497e-6
allele num: 109132
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3288A>G
  hgvsp: ENST00000304636.3:c.3288A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-520A>G
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38214
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 618
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Glu1096Glu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8054
  num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

2-189872268-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872268
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872268
    reference: chr 2
allele count: 2
allele frequency: 1.81100365822739e-5
allele num: 110436
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-510C>T
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3298C>T
  hgvsp: ENSP00000304408.3:p.Arg1100Cys
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Arg1100Cys
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9328
  num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-189872269-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872269
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872269
    reference: chr 2
allele count: 5
allele frequency: 4.520795660036166e-5
allele num: 110600
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-509G>A
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3299G>A
  hgvsp: ENSP00000304408.3:p.Arg1100His
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Arg1100His
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.643871646501841e-5
  allele num: 60832
  num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP

2-189872282-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872282
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872282
    reference: chr 2
allele count: 1
allele frequency: 9.106141181612879e-6
allele num: 109816
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-496C>G
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3312C>G
  hgvsp: ENST00000304636.3:c.3312C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Gly1104Gly
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6064
  num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

2-189872295-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872295
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872295
    reference: chr 2
allele count: 6
allele frequency: 5.580045756375203e-5
allele num: 107526
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-483C>G
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3325C>G
  hgvsp: ENSP00000304408.3:p.Arg1109Gly
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2419
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9721
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36675
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4990
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg1109Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD

2-189872296-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872296
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872296
    reference: chr 2
allele count: 4
allele frequency: 3.721414881938113e-5
allele num: 107486
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3326G>A
  hgvsp: ENSP00000304408.3:p.Arg1109Gln
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-482G>A
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7865
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6778
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33165
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4987
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37148
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9772
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 383
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2414
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg1109Gln
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10434
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

2-189872306-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872306
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872306
    reference: chr 2
allele count: 19
allele frequency: 1.832738497154432e-4
allele num: 103670
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-472T>C
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3336T>C
  hgvsp: ENST00000304636.3:c.3336T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29297
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6959
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6905
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 488
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13424
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
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genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32675
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro1112Pro
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 770
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

2-189872319-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872319
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872319
    reference: chr 2
allele count: 1
allele frequency: 1.026420052142139e-5
allele num: 97426
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-459G>T
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3349G>T
  hgvsp: ENSP00000304408.3:p.Ala1117Ser
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10909
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11456
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1870
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 348
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1663
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala1117Ser
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9328
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

2-189872322-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872322
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872322
    reference: chr 2
allele count: 1
allele frequency: 1.058156268517735e-5
allele num: 94504
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3352C>T
  hgvsp: ENSP00000304408.3:p.Pro1118Ser
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-456C>T
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4986
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro1118Ser
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5266
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ

2-189872323-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872323
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872323
    reference: chr 2
allele count: 1
allele frequency: 1.058313048999894e-5
allele num: 94490
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3353C>T
  hgvsp: ENSP00000304408.3:p.Pro1118Leu
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-455C>T
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12787
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20527
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22168
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1898
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21583
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4986
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro1118Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5254
  num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

2-189872327-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872327
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872327
    reference: chr 2
allele count: 1
allele frequency: 1.072363059237335e-5
allele num: 93252
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3357T>C
  hgvsp: ENST00000304636.3:c.3357T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-451T>C
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2328
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1961
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21105
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 355
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 4986
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly1119Gly
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8112
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-189872346-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872346
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872346
    reference: chr 2
allele count: 1
allele frequency: 1.236093943139679e-5
allele num: 80900
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-432A>G
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3363+13A>G
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31241
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3554
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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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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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 398
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7212
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ

2-189872354-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872354
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872354
    reference: chr 2
allele count: 3
allele frequency: 3.938455075355774e-5
allele num: 76172
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3363+21G>C
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-424G>C
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17972
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21635
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 1.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4566
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6282
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 3199
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 598
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: QD

2-189872355-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872355
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872355
    reference: chr 2
allele count: 2
allele frequency: 2.655971952936177e-5
allele num: 75302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-423G>A
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3363+22G>A
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5991
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3799
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 355
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4986
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4903
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4904
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

2-189872363-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872363
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872363
    reference: chr 2
allele count: 137
allele frequency: 2.029088539352469e-3
allele num: 67518
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-415C>T
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3363+30C>T
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1537
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
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  variant carriers: 6
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
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  variant carriers: 6
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 30
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 551
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 249
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4144
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3352
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 270
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3662
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genotype quality: GenotypeQuality
  all individuals: 244
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 65
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genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 356
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
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  variant carriers: 0
num of homozygotes: 1
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 9.110787172011662e-5
  allele num: 10976
  num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

2-189872369-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872369
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872369
    reference: chr 2
allele count: 1
allele frequency: 1.636072118058964e-5
allele num: 61122
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-409T>G
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3363+36T>G
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21486
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 944
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4890
  num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

2-189872370-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872370
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872370
    reference: chr 2
allele count: 1
allele frequency: 1.641443156823479e-5
allele num: 60922
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3363+37G>A
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-408G>A
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5610
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-189872372-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872372
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872372
    reference: chr 2
allele count: 4
allele frequency: 6.732193348592971e-5
allele num: 59416
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-406A>G
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3363+39A>G
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7864
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22256
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 474
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

2-189872373-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872373
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872373
    reference: chr 2
allele count: 1
allele frequency: 1.721703798078578e-5
allele num: 58082
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3363+40T>C
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-405T>C
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4464
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

2-189872571-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872571
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872571
    reference: chr 2
allele count: 1
allele frequency: 8.299995020002988e-6
allele num: 120482
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3364-40T>C
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-207T>C
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.511487303506651e-5
  allele num: 66160
  num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

2-189872581-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872581
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872581
    reference: chr 2
allele count: 1
allele frequency: 8.293111741387604e-6
allele num: 120582
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-197C>G
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3364-30C>G
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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num of homozygotes: 0
population: African
  type: Population
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  allele num: 10114
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
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2-189872583-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872583
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872583
    reference: chr 2
allele count: 1
allele frequency: 8.29242404139578e-6
allele num: 120592
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-195C>T
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3364-28C>T
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39363
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6056
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8644
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

2-189872584-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872584
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872584
    reference: chr 2
allele count: 1
allele frequency: 8.291598951941893e-6
allele num: 120604
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-194T>A
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3364-27T>A
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8124
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 39410
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 882
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 2100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.056935190793458e-5
  allele num: 16510
  num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

2-189872586-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872586
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872586
    reference: chr 2
allele count: 1
allele frequency: 8.291461452995706e-6
allele num: 120606
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3364-25C>G
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-192C>G
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29766
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2101
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6054
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1964
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 349
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 902
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

2-189872588-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872588
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872588
    reference: chr 2
allele count: 16
allele frequency: 1.326545840449699e-4
allele num: 120614
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3364-23A>G
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-190A>G
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 546
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8137
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 169
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

2-189872603-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872603
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872603
    reference: chr 2
allele count: 9
allele frequency: 7.455021371061264e-5
allele num: 120724
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-175C>T
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3364-8C>T
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 13532
  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.25e1
  variant carriers: 0
hgvs: c.3364-8C>T
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

2-189872615-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872615
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872615
    reference: chr 2
allele count: 1
allele frequency: 8.274994621253496e-6
allele num: 120846
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3368C>G
  hgvsp: ENSP00000304408.3:p.Pro1123Arg
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-163C>G
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6043
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39895
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro1123Arg
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11576
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

2-189872615-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872615
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872615
    reference: chr 2
allele count: 1
allele frequency: 8.274994621253496e-6
allele num: 120846
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-163C>T
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3368C>T
  hgvsp: ENSP00000304408.3:p.Pro1123Leu
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39895
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8162
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1969
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro1123Leu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10224
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-189872626-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872626
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872626
    reference: chr 2
allele count: 1
allele frequency: 8.266785708380868e-6
allele num: 120966
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3379C>G
  hgvsp: ENSP00000304408.3:p.Gln1127Glu
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-152C>G
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Gln1127Glu
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 9.74089226573154e-5
  allele num: 10266
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-189872637-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872637
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872637
    reference: chr 2
allele count: 3
allele frequency: 2.477496077297878e-5
allele num: 121090
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-141C>T
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3390C>T
  hgvsp: ENST00000304636.3:c.3390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 587
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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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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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 67
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hgvs: p.Ile1130Ile
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8650
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-189872637-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872637
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872637
    reference: chr 2
allele count: 1
allele frequency: 8.258320257659592e-6
allele num: 121090
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3390C>A
  hgvsp: ENST00000304636.3:c.3390C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-141C>A
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40171
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8203
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2121
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6038
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1971
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile1130Ile
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10304
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum

2-189872658-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872658
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872658
    reference: chr 2
allele count: 4
allele frequency: 3.299077907724791e-5
allele num: 121246
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3411C>T
  hgvsp: ENST00000304636.3:c.3411C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-120C>T
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13749
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 471
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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: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2125
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40424
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 8267
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6035
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 353
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly1137Gly
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP

2-189872660-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872660
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872660
    reference: chr 2
allele count: 22
allele frequency: 1.814193590948823e-4
allele num: 121266
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-118C>T
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3413C>T
  hgvsp: ENSP00000304408.3:p.Pro1138Leu
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1985
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  variant carriers: 0
hgvs: p.Pro1138Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11578
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum

2-189872682-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872682
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872682
    reference: chr 2
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3417+18A>G
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-96A>G
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 40620
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6610
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

2-189872688-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872688
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872688
    reference: chr 2
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3417+24C>T
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-90C>T
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8299
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1989
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6017
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40610
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11572
  num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

2-189872691-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872691
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872691
    reference: chr 2
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-87G>A
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3417+27G>A
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8967
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 355
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8299
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

2-189872691-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872691
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872691
    reference: chr 2
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-87G>C
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3417+27G>C
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8967
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 10
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  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-189872700-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872700
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872700
    reference: chr 2
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-78T>C
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3417+36T>C
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10398
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

2-189872712-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872712
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872712
    reference: chr 2
allele count: 7
allele frequency: 5.778915215058202e-5
allele num: 121130
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-66G>A
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3417+48G>A
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 499
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40266
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8201
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 7
  allele frequency: 1.051114181031894e-4
  allele num: 66596
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

2-189872714-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872714
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872714
    reference: chr 2
allele count: 5
allele frequency: 4.128341892762191e-5
allele num: 121114
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-64A>G
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3418-47A>G
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40224
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2115
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5997
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8192
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genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1969
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16488
  num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

2-189872716-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872716
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872716
    reference: chr 2
allele count: 6
allele frequency: 4.955810688031717e-5
allele num: 121070
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-62T>C
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3418-45T>C
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8783
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40092
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 2112
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1967
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genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 5991
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 5
  allele frequency: 3.033980582524272e-4
  allele num: 16480
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum

2-189872731-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872731
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872730
    reference: chr 2
allele count: 1
allele frequency: 8.286926544683108e-6
allele num: 120672
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3418-28delG
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-45delG
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13876
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8349
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 451
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
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genotype quality: GenotypeQuality
  all individuals: 248
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 866
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 213
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  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 9.667440061871617e-5
  allele num: 10344
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: TG
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

2-189872733-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872733
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872733
    reference: chr 2
allele count: 5
allele frequency: 4.147106149328998e-5
allele num: 120566
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-45G>A
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3418-28G>A
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 38618
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 351
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5966
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66322
  num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

2-189872734-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872734
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872734
    reference: chr 2
allele count: 5
allele frequency: 4.14765657403567e-5
allele num: 120550
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-44C>T
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3418-27C>T
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8155
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7779
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2014
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5964
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38872
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8568
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

2-189872737-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872737
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872737
    reference: chr 2
allele count: 5
allele frequency: 4.155377890065322e-5
allele num: 120326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-41T>C
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3418-24T>C
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7922
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28811
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7604
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1851
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5963
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38025
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 898
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

2-189872738-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872738
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872738
    reference: chr 2
allele count: 5
allele frequency: 4.156137784279825e-5
allele num: 120304
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3418-23G>A
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-40G>A
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7896
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38239
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7578
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1839
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genotype quality: GenotypeQuality
  all individuals: 5962
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6556
  num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

2-189872740-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872740
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872740
    reference: chr 2
allele count: 1
allele frequency: 8.317253310266817e-6
allele num: 120232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-38G>T
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3418-21G>T
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7764
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1824
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7513
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38184
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5954
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8550
  num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ

2-189872742-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872742
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872742
    reference: chr 2
allele count: 1
allele frequency: 8.318637074501714e-6
allele num: 120212
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-36T>G
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3418-19T>G
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7662
  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 584
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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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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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11450
  num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-189872746-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872746
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872746
    reference: chr 2
allele count: 4
allele frequency: 3.333222225925803e-5
allele num: 120004
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3418-15A>G
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-32A>G
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7436
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1054
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 502
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5947
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  variant carriers: 4
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6532
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

2-189872747-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872747
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872747
    reference: chr 2
allele count: 2
allele frequency: 1.667778519012675e-5
allele num: 119920
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3418-14T>A
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-31T>A
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65996
  num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

2-189872749-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872749
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872749
    reference: chr 2
allele count: 4
allele frequency: 3.338675213675214e-5
allele num: 119808
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-29A>G
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3418-12A>G
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6520
  num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

2-189872750-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872750
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872751
    reference: chr 2
allele count: 1
allele frequency: 8.347942232239753e-6
allele num: 119790
alternate allele: TA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3418-10dupA
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-27dupA
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27582
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype 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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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7153
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8518
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

2-189872764-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872764
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872764
    reference: chr 2
allele count: 1
allele frequency: 8.407035006893769e-6
allele num: 118948
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-14C>T
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3421C>T
  hgvsp: ENSP00000304408.3:p.Pro1141Ser
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25565
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 290
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro1141Ser
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11316
  num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: DP

2-189872768-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872768
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872768
    reference: chr 2
allele count: 1
allele frequency: 8.418217021634817e-6
allele num: 118790
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-10T>A
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3425T>A
  hgvsp: ENSP00000304408.3:p.Val1142Asp
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: p.Val1142Asp
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10150
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

2-189872773-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872773
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872773
    reference: chr 2
allele count: 1
allele frequency: 8.437964088024841e-6
allele num: 118512
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3430C>T
  hgvsp: ENSP00000304408.3:p.Pro1144Ser
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-5C>T
  variant of: http://identifiers.org/hgnc/2201
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5508
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Pro1144Ser
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10126
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD

2-189872776-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189872776
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 189872776
    reference: chr 2
allele count: 2
allele frequency: 1.689617301681169e-5
allele num: 118370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000315243
  ensembl transcript: ENST00000317840
  gene symbol: COL3A1
  hgvsc: ENST00000317840.5:c.2526-2A>G
  variant of: http://identifiers.org/hgnc/2201
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168542
  ensembl protein: ENSP00000304408
  ensembl transcript: ENST00000304636
  gene symbol: COL3A1
  hgvsc: ENST00000304636.3:c.3433A>G
  hgvsp: ENSP00000304408.3:p.Ser1145Gly
  variant of: http://identifiers.org/hgnc/2201
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37273
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5939
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 7.75e1
  variant carriers: 0
hgvs: c.2526-2A>G
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8432
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16370
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510437120502674e-5
allele num: 66206
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.928e1

VQSLOD
type: SiteQuality
SIO_000300: 1.46e-1

FS
type: SiteQuality
SIO_000300: 5.476e0

QD
type: SiteQuality
SIO_000300: 9.619999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.29e-1

DP
type: SiteQuality
SIO_000300: 2.202823e6

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16250
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.147118e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

VQSLOD
type: SiteQuality
SIO_000300: -2.225e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.24e-1

QD
type: SiteQuality
SIO_000300: 1.687e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10060
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64918
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8382
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11316
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.43e-1

QD
type: SiteQuality
SIO_000300: 1.167e1

DP
type: SiteQuality
SIO_000300: 2.094472e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 6.79e-1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.549858962834382e-5
allele num: 64522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11250
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8326
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.201e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

DP
type: SiteQuality
SIO_000300: 2.043281e6

VQSLOD
type: SiteQuality
SIO_000300: -8.172e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.156e0

MQRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

Other
type: Population
allele count: 1
allele frequency: 1.133786848072562e-3
allele num: 882
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: 6500
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.210408644888833e-5
allele num: 16102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64432
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8312
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.82e-1

MQ
type: SiteQuality
SIO_000300: 5.869e1

FS
type: SiteQuality
SIO_000300: 7.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.39e-1

QD
type: SiteQuality
SIO_000300: 1.064e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.39e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.166e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.46e-1

DP
type: SiteQuality
SIO_000300: 2.039507e6

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: 16066
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63970
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9920
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8194
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -7.09e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.734e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.896e1

DP
type: SiteQuality
SIO_000300: 1.940675e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

African
type: Population
allele count: 1
allele frequency: 1.008878127522195e-4
allele num: 9912
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8192
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63968
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16058
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.094e0

MQRankSum
type: SiteQuality
SIO_000300: -5.23e-1

DP
type: SiteQuality
SIO_000300: 1.939328e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.293e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.865e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e0

QD
type: SiteQuality
SIO_000300: 6.0e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11172
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9860
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: 8138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.569267465946896e-5
allele num: 63724
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

VQSLOD
type: SiteQuality
SIO_000300: -1.338e0

DP
type: SiteQuality
SIO_000300: 1.895934e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

MQ
type: SiteQuality
SIO_000300: 5.946e1

FS
type: SiteQuality
SIO_000300: 1.5642e1

QD
type: SiteQuality
SIO_000300: 1.513e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.72e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63560
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16004
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11160
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.016466761536898e-4
allele num: 9838
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQ
type: SiteQuality
SIO_000300: 5.944e1

MQRankSum
type: SiteQuality
SIO_000300: -3.08e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.873437e6

VQSLOD
type: SiteQuality
SIO_000300: -3.761e0

QD
type: SiteQuality
SIO_000300: 6.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.06e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63002
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6442
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15932
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.024800163968026e-4
allele num: 9758
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11094
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.811e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.42e-1

MQ
type: SiteQuality
SIO_000300: 5.662e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

DP
type: SiteQuality
SIO_000300: 1.805972e6

QD
type: SiteQuality
SIO_000300: 1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.513e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.519e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61820
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9590
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10860
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.270486596366408e-4
allele num: 15742
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.221e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.73e-1

QD
type: SiteQuality
SIO_000300: 1.038e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.27e-2

MQ
type: SiteQuality
SIO_000300: 5.852e1

VQSLOD
type: SiteQuality
SIO_000300: 2.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.439e0

MQRankSum
type: SiteQuality
SIO_000300: -5.17e-1

DP
type: SiteQuality
SIO_000300: 1.756731e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7824
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 9.382819015846538e-4
allele num: 9592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61778
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15764
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.444e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

FS
type: SiteQuality
SIO_000300: 4.288e0

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

DP
type: SiteQuality
SIO_000300: 1.724872e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.97e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

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: 10758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61056
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.278118609406953e-4
allele num: 15648
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7748
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.43e-1

FS
type: SiteQuality
SIO_000300: 7.152e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.508e1

MQRankSum
type: SiteQuality
SIO_000300: 5.26e-1

DP
type: SiteQuality
SIO_000300: 1.710914e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.32e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15604
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.646144729044577e-5
allele num: 60748
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7708
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.25e-1

QD
type: SiteQuality
SIO_000300: 1.074e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.935e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.395e0

DP
type: SiteQuality
SIO_000300: 1.706932e6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 18
allele frequency: 8.014247551202136e-3
allele num: 2246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 6.236357966947302e-4
allele num: 19242
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8824
num of homozygotes: 0

Latino
type: Population
allele count: 0
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allele num: 2460
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.688172043010753e-3
allele num: 372
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

VQSLOD
type: SiteQuality
SIO_000300: 5.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.77e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 1.271e1

DP
type: SiteQuality
SIO_000300: 7.33198e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21134
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8954
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.538071065989848e-3
allele num: 394
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 1.057641459545214e-3
allele num: 3782
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.762227238525207e-4
allele num: 2658
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2428
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.683e0

DP
type: SiteQuality
SIO_000300: 8.0133e5

MQRankSum
type: SiteQuality
SIO_000300: 5.34e-1

QD
type: SiteQuality
SIO_000300: 1.212e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.28e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.468e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

European (Non-Finnish)
type: Population
allele count: 429
allele frequency: 1.695116168800379e-2
allele num: 25308
num of homozygotes: 0

Latino
type: Population
allele count: 13
allele frequency: 3.958587088915956e-3
allele num: 3284
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 6.84931506849315e-3
allele num: 438
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East Asian
type: Population
allele count: 8
allele frequency: 3.937007874015748e-3
allele num: 2032
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South Asian
type: Population
allele count: 22
allele frequency: 2.345415778251599e-3
allele num: 9380
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European (Finnish)
type: Population
allele count: 47
allele frequency: 1.661951909476662e-2
allele num: 2828
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

QD
type: SiteQuality
SIO_000300: 1.258e1

MQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.82449e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2742
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5232
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.364737550471063e-5
allele num: 29720
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 478
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3276
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9762
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.624e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.163e0

FS
type: SiteQuality
SIO_000300: 1.5937e1

DP
type: SiteQuality
SIO_000300: 9.50911e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.103e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.04e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10424
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3886
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Latino
type: Population
allele count: 1
allele frequency: 1.778726431874778e-4
allele num: 5622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6132
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3890
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e0

FS
type: SiteQuality
SIO_000300: 3.522e0

MQRankSum
type: SiteQuality
SIO_000300: -7.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.64e-1

MQ
type: SiteQuality
SIO_000300: 5.914e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

DP
type: SiteQuality
SIO_000300: 1.045534e6

QD
type: SiteQuality
SIO_000300: 1.084e1

VQSLOD
type: SiteQuality
SIO_000300: 4.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.15e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36694
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6206
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5782
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3940
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 8.566533409480297e-4
allele num: 10506
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 568
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

DP
type: SiteQuality
SIO_000300: 1.056053e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.7e-2

FS
type: SiteQuality
SIO_000300: 1.533e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

VQSLOD
type: SiteQuality
SIO_000300: 2.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.477e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57844
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5920
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Latino
type: Population
allele count: 1
allele frequency: 9.712509712509713e-5
allele num: 10296
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7782
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -7.528e-1

MQ
type: SiteQuality
SIO_000300: 5.901e1

MQRankSum
type: SiteQuality
SIO_000300: 1.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

QD
type: SiteQuality
SIO_000300: 1.173e1

DP
type: SiteQuality
SIO_000300: 1.384099e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

South Asian
type: Population
allele count: 1
allele frequency: 6.962818548948615e-5
allele num: 14362
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9238
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6086
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Latino
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: 816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59942
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.134e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.29e-1

MQ
type: SiteQuality
SIO_000300: 5.671e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 2.398e0

DP
type: SiteQuality
SIO_000300: 1.416771e6

VQSLOD
type: SiteQuality
SIO_000300: -1.656e0

MQRankSum
type: SiteQuality
SIO_000300: -9.29e-1

QD
type: SiteQuality
SIO_000300: 1.404e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.646361540994402e-5
allele num: 60740
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6144
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10728
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.885155604516663e-5
allele num: 14524
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VQSLOD
type: SiteQuality
SIO_000300: 6.49e-1

DP
type: SiteQuality
SIO_000300: 1.430605e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.723e0

MQRankSum
type: SiteQuality
SIO_000300: -5.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.99e-1

QD
type: SiteQuality
SIO_000300: 1.323e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

African
type: Population
allele count: 1
allele frequency: 1.070434596446157e-4
allele num: 9342
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6148
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East Asian
type: Population
allele count: 2
allele frequency: 2.450980392156863e-4
allele num: 8160
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Latino
type: Population
allele count: 1
allele frequency: 9.305788200260562e-5
allele num: 10746
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

QD
type: SiteQuality
SIO_000300: 1.111e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.74e-1

FS
type: SiteQuality
SIO_000300: 6.984e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.432347e6

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.654971534489607e-5
allele num: 60424
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8088
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10656
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9288
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14480
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ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.675e0

MQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.085e0

VQSLOD
type: SiteQuality
SIO_000300: 9.7e-2

DP
type: SiteQuality
SIO_000300: 1.421398e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.453371204436329e-5
allele num: 59148
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East Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5908
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African
type: Population
allele count: 1
allele frequency: 1.093852548676438e-4
allele num: 9142
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
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allele num: 14204
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.05e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.907e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.388198e6

BaseQRankSum
type: SiteQuality
SIO_000300: 9.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

FS
type: SiteQuality
SIO_000300: 3.838e0

QD
type: SiteQuality
SIO_000300: 2.109e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7890
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European (Non-Finnish)
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allele count: 3
allele frequency: 5.074596569572719e-5
allele num: 59118
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5906
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South Asian
type: Population
allele count: 1
allele frequency: 7.037297677691766e-5
allele num: 14210
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9136
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MQRankSum
type: SiteQuality
SIO_000300: 8.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

DP
type: SiteQuality
SIO_000300: 1.388171e6

MQ
type: SiteQuality
SIO_000300: 5.982e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.08e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.61e-1

QD
type: SiteQuality
SIO_000300: 1.019e1

East Asian
type: Population
allele count: 0
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Latino
type: Population
allele count: 19
allele frequency: 1.881560705090117e-3
allele num: 10098
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5706
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8826
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56910
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QD
type: SiteQuality
SIO_000300: 1.029e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

DP
type: SiteQuality
SIO_000300: 1.329152e6

MQRankSum
type: SiteQuality
SIO_000300: -1.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.11e-1

FS
type: SiteQuality
SIO_000300: 3.478e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.273e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.45e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5400
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8416
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53322
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South Asian
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allele count: 1
allele frequency: 7.543753771876886e-5
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6972
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MQRankSum
type: SiteQuality
SIO_000300: -1.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.296e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

DP
type: SiteQuality
SIO_000300: 1.236267e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.173e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51642
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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allele num: 716
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.495215311004785e-4
allele num: 6688
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.08e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.32e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

DP
type: SiteQuality
SIO_000300: 1.189973e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.941e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.271e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8978
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 1
allele frequency: 1.388888888888889e-3
allele num: 720
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51640
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African
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
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VQSLOD
type: SiteQuality
SIO_000300: -7.997e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.187e0

DP
type: SiteQuality
SIO_000300: 1.188973e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

FS
type: SiteQuality
SIO_000300: 2.062e0

QD
type: SiteQuality
SIO_000300: 6.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50930
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12942
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5190
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8774
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East Asian
type: Population
allele count: 0
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Other
type: Population
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DP
type: SiteQuality
SIO_000300: 1.167139e6

MQRankSum
type: SiteQuality
SIO_000300: 5.38e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.919e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

FS
type: SiteQuality
SIO_000300: 7.38e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.5e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.289377289377289e-5
allele num: 43680
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4694
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African
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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South Asian
type: Population
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.457e0

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.11e-1

DP
type: SiteQuality
SIO_000300: 9.88021e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e0

QD
type: SiteQuality
SIO_000300: 1.477e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Latino
type: Population
allele count: 1
allele frequency: 1.491646778042959e-4
allele num: 6704
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.441883180308654e-5
allele num: 40952
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4508
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East Asian
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allele count: 0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6822
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South Asian
type: Population
allele count: 1
allele frequency: 8.614748449345279e-5
allele num: 11608
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MQRankSum
type: SiteQuality
SIO_000300: -6.14e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.762e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.556e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.15e-2

DP
type: SiteQuality
SIO_000300: 9.46595e5

FS
type: SiteQuality
SIO_000300: 1.6493e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.77e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6744
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4464
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 590
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
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South Asian
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allele count: 2
allele frequency: 1.731601731601732e-4
allele num: 11550
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VQSLOD
type: SiteQuality
SIO_000300: -2.165e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

FS
type: SiteQuality
SIO_000300: 7.21e-1

QD
type: SiteQuality
SIO_000300: 1.165e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.22e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.062e0

MQRankSum
type: SiteQuality
SIO_000300: 3.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 9.40137e5

African
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allele count: 128
allele frequency: 2.069188490139024e-2
allele num: 6186
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Latino
type: Population
allele count: 7
allele frequency: 1.240255138199858e-3
allele num: 5644
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Other
type: Population
allele count: 1
allele frequency: 1.865671641791045e-3
allele num: 536
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4152
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35936
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East Asian
type: Population
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allele num: 4088
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VQSLOD
type: SiteQuality
SIO_000300: 6.14e0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

QD
type: SiteQuality
SIO_000300: 1.407e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.76e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.835e0

DP
type: SiteQuality
SIO_000300: 8.91665e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
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African
type: Population
allele count: 1
allele frequency: 1.77430801987225e-4
allele num: 5636
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East Asian
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allele frequency: 0.0e0
allele num: 3516
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32204
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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FS
type: SiteQuality
SIO_000300: 2.632e0

DP
type: SiteQuality
SIO_000300: 8.57103e5

VQSLOD
type: SiteQuality
SIO_000300: -6.521e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.01e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.031e0

MQRankSum
type: SiteQuality
SIO_000300: -1.031e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

QD
type: SiteQuality
SIO_000300: 7.82e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.115458907097015e-5
allele num: 32098
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3880
num of homozygotes: 0

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

East Asian
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allele count: 0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10474
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QD
type: SiteQuality
SIO_000300: 1.099e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.29e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.23e-1

FS
type: SiteQuality
SIO_000300: 2.169e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

DP
type: SiteQuality
SIO_000300: 8.5649e5

VQSLOD
type: SiteQuality
SIO_000300: 5.610000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.05e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.5e-2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.411078343377356e-5
allele num: 31196
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3374
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African
type: Population
allele count: 2
allele frequency: 3.646973012399708e-4
allele num: 5484
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3828
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4662
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MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.06e-2

MQ
type: SiteQuality
SIO_000300: 5.845e1

FS
type: SiteQuality
SIO_000300: 9.435e0

VQSLOD
type: SiteQuality
SIO_000300: -3.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.1e-2

DP
type: SiteQuality
SIO_000300: 8.47688e5

QD
type: SiteQuality
SIO_000300: 1.77e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30464
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3752
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3246
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African
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allele count: 1
allele frequency: 1.860119047619048e-4
allele num: 5376
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South Asian
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allele count: 0
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Other
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allele num: 470
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MQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

VQSLOD
type: SiteQuality
SIO_000300: 4.49e-1

FS
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.09e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.342e1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
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num of homozygotes: 0

East Asian
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allele count: 0
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South Asian
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allele num: 16508
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InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -7.4e-2

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

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

East Asian
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allele count: 0
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Other
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allele num: 902
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VQSLOD
type: SiteQuality
SIO_000300: 4.87e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

QD
type: SiteQuality
SIO_000300: 1.431e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e0

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

Latino
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African
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allele count: 1
allele frequency: 9.887284951552304e-5
allele num: 10114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66238
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South Asian
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Other
type: Population
allele count: 0
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MQ
type: SiteQuality
SIO_000300: 5.916e1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.259e0

MQRankSum
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 4.163e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.279e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.299999999999999e-3

DP
type: SiteQuality
SIO_000300: 1.873528e6

QD
type: SiteQuality
SIO_000300: 9.94e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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African
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allele count: 0
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East Asian
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allele frequency: 0.0e0
allele num: 8644
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66244
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.936e1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.66e-1

QD
type: SiteQuality
SIO_000300: 1.078e1

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-1

DP
type: SiteQuality
SIO_000300: 1.873667e6

VQSLOD
type: SiteQuality
SIO_000300: 5.0e-1

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

Latino
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allele num: 11570
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African
type: Population
allele count: 1
allele frequency: 9.8833761612967e-5
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num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66250
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South Asian
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allele count: 0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
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QD
type: SiteQuality
SIO_000300: 1.277e1

FS
type: SiteQuality
SIO_000300: 3.698e0

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.46e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

DP
type: SiteQuality
SIO_000300: 1.874201e6

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

African
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South Asian
type: Population
allele count: 12
allele frequency: 7.26832222895215e-4
allele num: 16510
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Other
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East Asian
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European (Non-Finnish)
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allele frequency: 3.018867924528302e-5
allele num: 66250
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.09e-1

DP
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SIO_000300: 1.875769e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 6.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.99e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.67e0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.524340954334319e-5
allele num: 66308
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African
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Latino
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allele frequency: 5.184929139301763e-4
allele num: 11572
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East Asian
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allele frequency: 0.0e0
allele num: 8648
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Other
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allele num: 902
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MQRankSum
type: SiteQuality
SIO_000300: 7.88e-1

VQSLOD
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ReadPosRankSum
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MQ
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QD
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InbreedingCoeff
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FS
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.457e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.61e-1

DP
type: SiteQuality
SIO_000300: 1.878082e6

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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East Asian
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allele frequency: 0.0e0
allele num: 8648
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South Asian
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allele num: 16510
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African
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 904
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European (Non-Finnish)
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allele frequency: 1.506704836522525e-5
allele num: 66370
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MQRankSum
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QD
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FS
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DP
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

Latino
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European (Finnish)
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allele num: 6614
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.506704836522525e-5
allele num: 66370
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South Asian
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East Asian
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Other
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FS
type: SiteQuality
SIO_000300: 4.539e0

MQRankSum
type: SiteQuality
SIO_000300: -4.87e-1

QD
type: SiteQuality
SIO_000300: 1.172e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.880427e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.31e-1

Latino
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allele count: 0
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East Asian
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele num: 16510
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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Other
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FS
type: SiteQuality
SIO_000300: 2.5735e1

MQRankSum
type: SiteQuality
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DP
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SIO_000300: 1.882754e6

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.09e0

QD
type: SiteQuality
SIO_000300: 1.522e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-2

African
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.5092439500977e-5
allele num: 66530
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South Asian
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allele count: 0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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Latino
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allele num: 11576
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Other
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQRankSum
type: SiteQuality
SIO_000300: -4.45e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

QD
type: SiteQuality
SIO_000300: 1.044e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.32e-1

European (Non-Finnish)
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allele count: 1
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allele num: 66530
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Latino
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East Asian
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South Asian
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European (Finnish)
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allele count: 0
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allele num: 6614
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Other
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.32e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.886131e6

FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.044e1

MQ
type: SiteQuality
SIO_000300: 5.984e1

MQRankSum
type: SiteQuality
SIO_000300: -4.45e-1

African
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allele count: 0
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Latino
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East Asian
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allele count: 4
allele frequency: 4.623208506703652e-4
allele num: 8652
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European (Non-Finnish)
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allele count: 0
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allele num: 66626
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South Asian
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Other
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MQRankSum
type: SiteQuality
SIO_000300: 4.32e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.498e0

FS
type: SiteQuality
SIO_000300: 5.873e0

DP
type: SiteQuality
SIO_000300: 1.889326e6

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 21
allele frequency: 3.151355082685555e-4
allele num: 66638
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European (Finnish)
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allele count: 1
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allele num: 6614
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Other
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East Asian
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South Asian
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MQRankSum
type: SiteQuality
SIO_000300: 1.25e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.890113e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.593e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
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FS
type: SiteQuality
SIO_000300: 2.616e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e-1

Latino
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European (Non-Finnish)
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African
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Other
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East Asian
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South Asian
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.07e0

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.893e1

MQRankSum
type: SiteQuality
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DP
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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QD
type: SiteQuality
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East Asian
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South Asian
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European (Finnish)
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Other
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African
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European (Non-Finnish)
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DP
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

VQSLOD
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ReadPosRankSum
type: SiteQuality
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East Asian
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European (Finnish)
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African
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South Asian
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Latino
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European (Non-Finnish)
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ClippingRankSum
type: SiteQuality
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FS
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
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MQ
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ReadPosRankSum
type: SiteQuality
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QD
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MQRankSum
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DP
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VQSLOD
type: SiteQuality
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European (Non-Finnish)
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African
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Latino
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allele num: 11572
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European (Finnish)
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South Asian
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East Asian
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BaseQRankSum
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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DP
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.57e-1

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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Latino
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allele frequency: 8.647526807333103e-5
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European (Finnish)
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Other
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QD
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ReadPosRankSum
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MQ
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.889454e6

FS
type: SiteQuality
SIO_000300: 1.524e0

MQRankSum
type: SiteQuality
SIO_000300: -7.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.9e0

Latino
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European (Finnish)
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African
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South Asian
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East Asian
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Other
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QD
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InbreedingCoeff
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VQSLOD
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.42e-1

MQ
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SIO_000300: 5.967e1

BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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FS
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SIO_000300: 6.23e-1

DP
type: SiteQuality
SIO_000300: 1.884613e6

Latino
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African
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Other
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European (Non-Finnish)
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allele count: 5
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allele num: 66586
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East Asian
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European (Finnish)
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allele num: 6590
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QD
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VQSLOD
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MQRankSum
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.854e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e-1

DP
type: SiteQuality
SIO_000300: 1.882925e6

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502223290469895e-5
allele num: 66568
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
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InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.32e-1

DP
type: SiteQuality
SIO_000300: 1.880929e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.669999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.505e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
SIO_000300: 6.584e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.87e0

MQRankSum
type: SiteQuality
SIO_000300: 4.03e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66372
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.153e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.861867e6

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.14e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.88e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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South Asian
type: Population
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allele num: 16390
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Latino
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 5
allele frequency: 4.838397522740468e-4
allele num: 10334
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
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VQSLOD
type: SiteQuality
SIO_000300: -9.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.736e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.85657e6

MQRankSum
type: SiteQuality
SIO_000300: -2.342e0

QD
type: SiteQuality
SIO_000300: 1.776e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.06e-1

MQ
type: SiteQuality
SIO_000300: 5.281e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66306
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African
type: Population
allele count: 5
allele frequency: 4.839334107626791e-4
allele num: 10332
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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allele num: 898
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.515e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.94e-1

DP
type: SiteQuality
SIO_000300: 1.855914e6

MQ
type: SiteQuality
SIO_000300: 5.257e1

FS
type: SiteQuality
SIO_000300: 3.035e0

MQRankSum
type: SiteQuality
SIO_000300: -2.489e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.96e-1

QD
type: SiteQuality
SIO_000300: 1.923e1

VQSLOD
type: SiteQuality
SIO_000300: -1.387e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11462
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66202
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South Asian
type: Population
allele count: 0
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allele num: 16358
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African
type: Population
allele count: 5
allele frequency: 4.8534265191225e-4
allele num: 10302
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MQRankSum
type: SiteQuality
SIO_000300: -2.864e0

VQSLOD
type: SiteQuality
SIO_000300: -1.295e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e-2

MQ
type: SiteQuality
SIO_000300: 5.23e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.45e-1

FS
type: SiteQuality
SIO_000300: 3.02e0

DP
type: SiteQuality
SIO_000300: 1.84562e6

QD
type: SiteQuality
SIO_000300: 1.982e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11460
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South Asian
type: Population
allele count: 0
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East Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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African
type: Population
allele count: 5
allele frequency: 4.855311711011847e-4
allele num: 10298
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66178
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MQ
type: SiteQuality
SIO_000300: 5.291e1

VQSLOD
type: SiteQuality
SIO_000300: -1.007e0

MQRankSum
type: SiteQuality
SIO_000300: -2.359e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.68e-1

FS
type: SiteQuality
SIO_000300: 1.049e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.266e0

QD
type: SiteQuality
SIO_000300: 2.029e1

DP
type: SiteQuality
SIO_000300: 1.845101e6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11450
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South Asian
type: Population
allele count: 1
allele frequency: 6.118453255017132e-5
allele num: 16344
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66134
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
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Other
type: Population
allele count: 0
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DP
type: SiteQuality
SIO_000300: 1.840923e6

MQRankSum
type: SiteQuality
SIO_000300: 6.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.599999999999999e-2

QD
type: SiteQuality
SIO_000300: 8.710000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.151e0

FS
type: SiteQuality
SIO_000300: 1.508e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6548
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
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South Asian
type: Population
allele count: 1
allele frequency: 6.122199093914534e-5
allele num: 16334
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66126
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

QD
type: SiteQuality
SIO_000300: 1.618e1

DP
type: SiteQuality
SIO_000300: 1.838391e6

MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.102e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.809e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.028926245645919e-5
allele num: 66030
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Latino
type: Population
allele count: 0
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allele num: 11426
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East Asian
type: Population
allele count: 0
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allele num: 8532
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South Asian
type: Population
allele count: 2
allele frequency: 1.226993865030675e-4
allele num: 16300
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African
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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FS
type: SiteQuality
SIO_000300: 1.355e0

VQSLOD
type: SiteQuality
SIO_000300: -3.55e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.92e-1

QD
type: SiteQuality
SIO_000300: 1.261e1

MQRankSum
type: SiteQuality
SIO_000300: -7.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.829221e6

South Asian
type: Population
allele count: 2
allele frequency: 1.228350325512836e-4
allele num: 16282
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Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

Latino
type: Population
allele count: 0
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allele num: 11416
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African
type: Population
allele count: 0
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 1.302e1

VQSLOD
type: SiteQuality
SIO_000300: 6.24e-1

DP
type: SiteQuality
SIO_000300: 1.825276e6

Other
type: Population
allele count: 0
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South Asian
type: Population
allele count: 0
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East Asian
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allele count: 0
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African
type: Population
allele count: 4
allele frequency: 3.90015600624025e-4
allele num: 10256
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65940
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FS
type: SiteQuality
SIO_000300: 5.118e0

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

DP
type: SiteQuality
SIO_000300: 1.819376e6

QD
type: SiteQuality
SIO_000300: 1.34e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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South Asian
type: Population
allele count: 1
allele frequency: 6.147037128104254e-5
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Other
type: Population
allele count: 0
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Latino
type: Population
allele count: 0
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allele num: 11402
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.273e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-2

DP
type: SiteQuality
SIO_000300: 1.819045e6

FS
type: SiteQuality
SIO_000300: 5.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

Other
type: Population
allele count: 0
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East Asian
type: Population
allele count: 0
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African
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allele count: 0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527370478983382e-5
allele num: 65472
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.952e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: -2.731e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.62e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.781511e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529379377848469e-5
allele num: 65386
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East Asian
type: Population
allele count: 0
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South Asian
type: Population
allele count: 0
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VQSLOD
type: SiteQuality
SIO_000300: -1.108e0

DP
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SIO_000300: 1.77447e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.34e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.15e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.669e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.01e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53261402648357e-5
allele num: 65248
num of homozygotes: 0

Other
type: Population
allele count: 0
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Latino
type: Population
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South Asian
type: Population
allele count: 0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.781e0

MQRankSum
type: SiteQuality
SIO_000300: 7.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.15e-1

DP
type: SiteQuality
SIO_000300: 1.764117e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

QD
type: SiteQuality
SIO_000300: 4.81e0

FS
type: SiteQuality
SIO_000300: 1.569e0

MQ
type: SiteQuality
SIO_000300: 5.87e1

VQSLOD
type: SiteQuality
SIO_000300: -2.7e0

South Asian
type: Population
allele count: 0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65184
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African
type: Population
allele count: 2
allele frequency: 1.980982567353407e-4
allele num: 10096
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11246
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.76e-1