2-27306810-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27306810
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27306810
    reference: chr 2
allele count: 17
allele frequency: 2.986542988651137e-4
allele num: 56922
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2371G>C
  hgvsp: ENSP00000369677.4:p.Gly791Arg
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.348G>C
  hgvsp: ENSP00000411201.1:p.Gly117Arg
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4075
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18424
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26419
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5069
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 554
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5311
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1869
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3338
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly791Arg
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4480
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

2-27306817-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27306817
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27306817
    reference: chr 2
allele count: 1
allele frequency: 1.934610176049526e-5
allele num: 51690
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.355T>C
  hgvsp: ENSP00000411201.1:p.Leu119Pro
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2378T>C
  hgvsp: ENSP00000369677.4:p.Leu793Pro
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28146
  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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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  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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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3429
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 624
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1867
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genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 125
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genotype quality: GenotypeQuality
  all individuals: 4342
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu793Pro
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 3.494060097833683e-5
  allele num: 28620
  num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-27306847-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27306847
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27306847
    reference: chr 2
allele count: 3
allele frequency: 8.597959417631549e-5
allele num: 34892
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2408G>A
  hgvsp: ENSP00000369677.4:p.Arg803His
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.385G>A
  hgvsp: ENSP00000411201.1:p.Arg129His
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9623
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12646
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32436
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 16
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  variant carriers: 0
hgvs: p.Arg803His
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 266
  num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

2-27306852-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27306852
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27306852
    reference: chr 2
allele count: 1
allele frequency: 2.967182956501098e-5
allele num: 33702
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.390C>T
  hgvsp: ENSP00000411201.1:p.His131Tyr
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2413C>T
  hgvsp: ENSP00000369677.4:p.His805Tyr
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12176
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36843
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2918
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
hgvs: p.His805Tyr
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3330
  num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

2-27306853-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27306853
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27306853
    reference: chr 2
allele count: 3
allele frequency: 8.967537514198601e-5
allele num: 33454
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2414A>G
  hgvsp: ENSP00000369677.4:p.His805Arg
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.391A>G
  hgvsp: ENSP00000411201.1:p.His131Arg
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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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: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10469
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genotype depth: GenotypeDepth
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
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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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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
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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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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 10640
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 327
  bin: 6.75e1
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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: 128
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 35
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His805Arg
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3320
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

2-27306855-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27306855
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27306855
    reference: chr 2
allele count: 1
allele frequency: 3.046922608165752e-5
allele num: 32820
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2416C>G
  hgvsp: ENSP00000369677.4:p.Gln806Glu
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.393C>G
  hgvsp: ENSP00000411201.1:p.Gln132Glu
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11917
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10787
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32490
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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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  variant carriers: 0
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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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 327
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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: 155
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2893
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  variant carriers: 0
hgvs: p.Gln806Glu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3598
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

2-27306857-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27306857
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27306857
    reference: chr 2
allele count: 1
allele frequency: 3.122073056509522e-5
allele num: 32030
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2418G>A
  hgvsp: ENST00000380320.4:c.2418G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.395G>A
  hgvsp: ENST00000433140.1:c.395G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  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: 1
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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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2763
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11387
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln806Gln
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3176
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

2-27306872-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27306872
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27306872
    reference: chr 2
allele count: 1
allele frequency: 3.667033370003667e-5
allele num: 27270
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2433C>G
  hgvsp: ENSP00000369677.4:p.Asp811Glu
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.410C>G
  hgvsp: ENSP00000411201.1:p.Asp137Glu
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  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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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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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 1.75e1
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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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  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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
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  variant carriers: 0
hgvs: p.Asp811Glu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2680
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS

2-27306880-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27306880
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27306880
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 24074
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2440+1G>C
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.418G>C
  hgvsp: ENSP00000411201.1:p.Gly140Ala
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: splice donor
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  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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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: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  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: 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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  bin: 9.75e1
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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
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1706
  bin: 6.25e1
  variant carriers: 0
hgvs: c.2440+1G>C
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2374
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

2-27306882-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27306882
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27306882
    reference: chr 2
allele count: 1
allele frequency: 4.309230371455658e-5
allele num: 23206
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.420G>A
  hgvsp: ENSP00000411201.1:p.Glu141Lys
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2440+3G>A
  variant of: http://identifiers.org/hgnc/19880
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
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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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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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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: 8.25e1
  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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  variant carriers: 1
hgvs: p.Glu141Lys
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2230
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

2-27306903-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27306903
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27306903
    reference: chr 2
allele count: 4
allele frequency: 2.81214848143982e-4
allele num: 14224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.432+9G>A
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2440+24G>A
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 3
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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  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
  all individuals: 85
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1330
  num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-27306905-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27306905
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27306905
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 12252
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.432+11A>G
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2440+26A>G
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 2.75e1
  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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  variant carriers: 0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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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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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1122
  num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

2-27306907-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27306907
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27306907
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 10494
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2440+28C>T
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.432+13C>T
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2466
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 964
  num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

2-27306926-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27306926
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27306926
    reference: chr 2
allele count: 11
allele frequency: 1.824212271973466e-3
allele num: 6030
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.432+32T>G
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2440+47T>G
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12619
  bin: 7.5e0
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37161
  bin: 2.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 9.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4498
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4296
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5766
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34246
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 6.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2071
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 3
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 150
  num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

2-27306943-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27306943
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27306943
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 4682
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.432+49A>G
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2440+64A>G
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37173
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12076
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3513
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5028
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29087
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 338
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

2-27307241-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307241
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307241
    reference: chr 2
allele count: 2
allele frequency: 1.774433955568174e-5
allele num: 112712
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2441-42C>G
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.433-42C>G
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4763
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3348
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10175
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  variant carriers: 3
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 840
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

2-27307241-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307241
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307241
    reference: chr 2
allele count: 6
allele frequency: 5.323301866704521e-5
allele num: 112712
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2441-42C>T
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.433-42C>T
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4763
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4051
  bin: 8.25e1
  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
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10175
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18009
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 13738
  num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

2-27307246-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307246
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307246
    reference: chr 2
allele count: 2
allele frequency: 1.771698882058005e-5
allele num: 112886
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2441-37T>G
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.433-37T>G
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 9.75e1
  variant carriers: 1
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
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 16290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7713
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 8.75e1
  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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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10167
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8880
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-27307253-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307253
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307253
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 112984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.433-30C>A
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2441-30C>A
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  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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  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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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
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  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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  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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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8560
  num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

2-27307256-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307256
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307255
    reference: chr 2
allele count: 1
allele frequency: 8.813057425882187e-6
allele num: 113468
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2441-25delC
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.433-25delC
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 4.75e1
  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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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: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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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: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
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  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 10168
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2747
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11498
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: TC
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

2-27307259-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307259
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307259
    reference: chr 2
allele count: 1
allele frequency: 8.796467338716771e-6
allele num: 113682
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2441-24T>C
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.433-24T>C
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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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
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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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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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 10167
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.69414014953921e-5
  allele num: 11502
  num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

2-27307275-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307275
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307275
    reference: chr 2
allele count: 1
allele frequency: 8.703674691454733e-6
allele num: 114894
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2441-8C>T
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.433-8C>T
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7557
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4762
  bin: 4.25e1
  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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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3363
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7860
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2428
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2747
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20761
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10168
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4875
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
hgvs: c.2441-8C>T
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8968
  num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

2-27307278-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307278
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307278
    reference: chr 2
allele count: 1
allele frequency: 8.67799434194769e-6
allele num: 115234
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.433-5T>C
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2441-5T>C
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7553
  bin: 3.75e1
  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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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4869
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 3.25e1
  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
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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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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21055
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2299
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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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
  all individuals: 2749
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 2.75e1
  variant carriers: 0
hgvs: c.2441-5T>C
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15398
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-27307284-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307284
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307284
    reference: chr 2
allele count: 1
allele frequency: 8.643191757852339e-6
allele num: 115698
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.434G>C
  hgvsp: ENST00000433140.1:c.434G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2442G>C
  hgvsp: ENST00000380320.4:c.2442G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  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: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4885
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10165
  bin: 9.75e1
  variant carriers: 1
hgvs: c.2442G>C
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-27307289-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307289
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307289
    reference: chr 2
allele count: 10
allele frequency: 8.617123948710879e-5
allele num: 116048
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.439C>A
  hgvsp: ENSP00000411201.1:p.Ala147Glu
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2447C>A
  hgvsp: ENSP00000369677.4:p.Ala816Glu
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7555
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  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: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7928
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 3362
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala816Glu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9032
  num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

2-27307294-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307294
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307294
    reference: chr 2
allele count: 1
allele frequency: 8.592984687301287e-6
allele num: 116374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.444G>A
  hgvsp: ENSP00000411201.1:p.Glu149Lys
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2452G>A
  hgvsp: ENSP00000369677.4:p.Glu818Lys
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7549
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  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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genotype depth: GenotypeDepth
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  bin: 7.5e0
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  bin: 5.75e1
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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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: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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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: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10155
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 2747
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu818Lys
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

2-27307300-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307300
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307300
    reference: chr 2
allele count: 1
allele frequency: 8.587229072922749e-6
allele num: 116452
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.450G>A
  hgvsp: ENSP00000411201.1:p.Gly151Arg
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2458G>A
  hgvsp: ENSP00000369677.4:p.Gly820Arg
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4761
  bin: 4.25e1
  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
  all individuals: 361
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
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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 quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly820Arg
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 63656
  num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

2-27307303-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307303
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307303
    reference: chr 2
allele count: 2
allele frequency: 1.717239365995226e-5
allele num: 116466
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2461C>T
  hgvsp: ENSP00000369677.4:p.Pro821Ser
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.453C>T
  hgvsp: ENSP00000411201.1:p.Pro152Ser
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7400
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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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  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2745
  bin: 9.25e1
  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
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro821Ser
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 876
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ

2-27307322-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307322
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307322
    reference: chr 2
allele count: 3
allele frequency: 2.558111772430377e-5
allele num: 117274
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2480T>G
  hgvsp: ENSP00000369677.4:p.Leu827Arg
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.472T>G
  hgvsp: ENSP00000411201.1:p.Leu158Arg
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
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genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2743
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu827Arg
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 3
  allele frequency: 4.69175190015952e-5
  allele num: 63942
  num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

2-27307323-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307323
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307323
    reference: chr 2
allele count: 1
allele frequency: 8.522678848415634e-6
allele num: 117334
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2481G>A
  hgvsp: ENST00000380320.4:c.2481G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.473G>A
  hgvsp: ENST00000433140.1:c.473G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7499
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7942
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4851
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3340
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10114
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu827Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 8.680555555555556e-5
  allele num: 11520
  num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

2-27307328-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307328
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307328
    reference: chr 2
allele count: 2
allele frequency: 1.702156632453318e-5
allele num: 117498
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2486G>C
  hgvsp: ENSP00000369677.4:p.Gly829Ala
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.478G>C
  hgvsp: ENSP00000411201.1:p.Gly160Ala
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7488
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4723
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22818
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2740
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4845
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7904
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4031
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10109
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3332
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly829Ala
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6610
  num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

2-27307369-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307369
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307369
    reference: chr 2
allele count: 2
allele frequency: 1.694972710939354e-5
allele num: 117996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.519G>A
  hgvsp: ENSP00000411201.1:p.Asp174Asn
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2527G>A
  hgvsp: ENSP00000369677.4:p.Asp843Asn
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4712
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2732
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3311
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10095
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7846
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23290
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1848
  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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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 161
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4020
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4815
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp843Asn
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 882
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP

2-27307369-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307369
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307369
    reference: chr 2
allele count: 1
allele frequency: 8.474863554696769e-6
allele num: 117996
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.519G>C
  hgvsp: ENSP00000411201.1:p.Asp174His
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2527G>C
  hgvsp: ENSP00000369677.4:p.Asp843His
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4712
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17571
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2732
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  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
  all individuals: 10095
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.75e1
  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
  all individuals: 4815
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1848
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1639
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp843His
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 882
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

2-27307371-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307371
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307371
    reference: chr 2
allele count: 1
allele frequency: 8.474001762592366e-6
allele num: 118008
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2529C>T
  hgvsp: ENST00000380320.4:c.2529C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.521C>T
  hgvsp: ENST00000433140.1:c.521C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 5.25e1
  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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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4711
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 7.5e0
  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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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2732
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4815
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10092
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp843Asp
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6584
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

2-27307372-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307372
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307372
    reference: chr 2
allele count: 2
allele frequency: 1.695202576707917e-5
allele num: 117980
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.522G>A
  hgvsp: ENSP00000411201.1:p.Gly175Arg
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2530G>A
  hgvsp: ENSP00000369677.4:p.Gly844Arg
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2675
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13678
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4712
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2731
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4812
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23215
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7830
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3305
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4018
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10093
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly844Arg
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8574
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

2-27307376-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307376
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307376
    reference: chr 2
allele count: 7
allele frequency: 5.931801233814657e-5
allele num: 118008
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.526A>T
  hgvsp: ENSP00000411201.1:p.Gln176Leu
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2534A>T
  hgvsp: ENSP00000369677.4:p.Gln845Leu
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8326
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13657
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3304
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10092
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 7838
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23266
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2731
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4817
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4020
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln845Leu
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16446
  num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/2-27307383-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307383
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307383
    reference: chr 2
allele count: 1
allele frequency: 8.489829184636805e-6
allele num: 117788
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2541C>A
  hgvsp: ENST00000380320.4:c.2541C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.533C>A
  hgvsp: ENST00000433140.1:c.533C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4703
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13636
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4015
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2730
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3284
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22885
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7756
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1791
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4800
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1841
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10081
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly847Gly
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16400
  num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/2-27307389-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307389
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307389
    reference: chr 2
allele count: 2
allele frequency: 1.698860064896454e-5
allele num: 117726
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2547C>A
  hgvsp: ENST00000380320.4:c.2547C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.539C>A
  hgvsp: ENST00000433140.1:c.539C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  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: 1
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7440
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22884
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1840
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7731
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 10081
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 108
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4011
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile849Ile
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 2
  allele frequency: 1.222045704509349e-4
  allele num: 16366
  num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

2-27307389-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307389
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307389
    reference: chr 2
allele count: 2
allele frequency: 1.698860064896454e-5
allele num: 117726
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2547C>T
  hgvsp: ENST00000380320.4:c.2547C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.539C>T
  hgvsp: ENST00000433140.1:c.539C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2674
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4700
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4011
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22884
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7731
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1908
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1840
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10081
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4786
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile849Ile
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11498
  num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

2-27307390-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307390
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307390
    reference: chr 2
allele count: 4
allele frequency: 3.398701695952147e-5
allele num: 117692
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.540G>A
  hgvsp: ENSP00000411201.1:p.Gly181Arg
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2548G>A
  hgvsp: ENSP00000369677.4:p.Gly850Arg
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8067
  bin: 2.25e1
  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
  all individuals: 7435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2726
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 10077
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3276
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly850Arg
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16354
  num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

2-27307397-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307397
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307397
    reference: chr 2
allele count: 1
allele frequency: 8.512087163772557e-6
allele num: 117480
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2555C>T
  hgvsp: ENSP00000369677.4:p.Pro852Leu
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.547C>T
  hgvsp: ENSP00000411201.1:p.Pro183Leu
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4694
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1641
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2723
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 24
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 4776
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3263
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro852Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD

http://identifiers.org/exac.variant/2-27307398-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307398
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307398
    reference: chr 2
allele count: 3
allele frequency: 2.553321871755153e-5
allele num: 117494
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.548A>C
  hgvsp: ENST00000433140.1:c.548A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2556A>C
  hgvsp: ENST00000380320.4:c.2556A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7422
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 2341
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4771
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 358
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1835
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 22403
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 64
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3258
  bin: 7.25e1
  variant carriers: 0
hgvs: c.2556A>C
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

2-27307399-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307399
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307399
    reference: chr 2
allele count: 1
allele frequency: 8.511072905850511e-6
allele num: 117494
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.549G>A
  hgvsp: ENSP00000411201.1:p.Gly184Ser
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2557G>A
  hgvsp: ENSP00000369677.4:p.Gly853Ser
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2.25e1
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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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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 4771
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  variant carriers: 0
hgvs: p.Gly853Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

2-27307402-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307402
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307402
    reference: chr 2
allele count: 2
allele frequency: 1.703519471227556e-5
allele num: 117404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.549+3A>T
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2557+3A>T
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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genotype quality: GenotypeQuality
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  variant carriers: 0
hgvs: c.2557+3A>T
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6468
  num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

2-27307407-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307407
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307407
    reference: chr 2
allele count: 33
allele frequency: 2.817045687359148e-4
allele num: 117144
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.549+8C>T
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2557+8C>T
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: c.2557+8C>T
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8574
  num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

2-27307409-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307409
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307409
    reference: chr 2
allele count: 1
allele frequency: 8.540584859251161e-6
allele num: 117088
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2557+10C>T
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.549+10C>T
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype 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: 9732
  num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

2-27307420-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307420
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307420
    reference: chr 2
allele count: 2
allele frequency: 1.715707300334563e-5
allele num: 116570
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2557+21G>C
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.549+21G>C
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
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genotype depth: GenotypeDepth
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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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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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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: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3960
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15970
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

2-27307422-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307422
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307422
    reference: chr 2
allele count: 1
allele frequency: 8.581923037314201e-6
allele num: 116524
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.549+23T>G
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2557+23T>G
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.571486940943521e-5
  allele num: 63634
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-27307424-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307424
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307424
    reference: chr 2
allele count: 1
allele frequency: 8.593723144615173e-6
allele num: 116364
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2557+25C>T
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.549+25C>T
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12957
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.572821642025794e-5
  allele num: 63580
  num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS

2-27307438-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307438
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307438
    reference: chr 2
allele count: 1
allele frequency: 8.654561819535076e-6
allele num: 115546
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.549+39A>T
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2557+39A>T
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15626
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum

2-27307449-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307449
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307449
    reference: chr 2
allele count: 3
allele frequency: 2.623661932414469e-5
allele num: 114344
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.549+50C>G
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2557+50C>G
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8901
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4260
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5229
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2734
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1781
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6196
  num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

2-27307810-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307810
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307810
    reference: chr 2
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2558-49T>G
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.550-49T>G
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6412
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6545
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6902
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53570
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  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: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

2-27307811-TAGTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307811
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307807
    reference: chr 2
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.550-45_550-42delTGAG
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2558-45_2558-42delTGAG
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 6411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2731
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6903
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6545
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5563
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53572
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  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: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: TAGTG
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

2-27307815-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307815
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307815
    reference: chr 2
allele count: 12
allele frequency: 9.886796183696674e-5
allele num: 121374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.550-44G>A
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2558-44G>A
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4002
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5326
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6406
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6546
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1436
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 773
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
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genotype quality: GenotypeQuality
  all individuals: 24
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genotype quality: GenotypeQuality
  all individuals: 819
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53578
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 7.75e1
  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: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum

2-27307823-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307823
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307823
    reference: chr 2
allele count: 6
allele frequency: 4.943316635908252e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.550-36C>T
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2558-36C>T
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5564
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6407
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 761
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
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genotype quality: GenotypeQuality
  all individuals: 53587
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 554
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10398
  num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

2-27307832-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307832
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307832
    reference: chr 2
allele count: 3
allele frequency: 2.471576866040534e-5
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.550-27T>C
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2558-27T>C
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6407
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4563
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53591
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
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: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-27307833-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307833
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307833
    reference: chr 2
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2558-26C>T
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.550-26C>T
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5843
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53590
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  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: 66720
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/2-27307835-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307835
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307835
    reference: chr 2
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.550-24C>A
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2558-24C>A
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5844
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53591
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
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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: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1194
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.75e1
  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: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

2-27307837-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307837
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307837
    reference: chr 2
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.550-22G>A
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2558-22G>A
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5844
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1097
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genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/2-27307840-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307840
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307841
    reference: chr 2
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.550-19_550-18insA
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2558-19_2558-18insA
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6550
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5844
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5561
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1452
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53592
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.498756032493031e-5
  allele num: 66722
  num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum

2-27307842-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307842
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307842
    reference: chr 2
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.550-17C>G
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2558-17C>G
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5844
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4022
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6907
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5329
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6551
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4563
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1069
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53591
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1115
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 571
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.498756032493031e-5
  allele num: 66722
  num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

2-27307850-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307850
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307850
    reference: chr 2
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.550-9T>C
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2558-9T>C
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5845
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5331
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10398
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-27307866-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307866
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307866
    reference: chr 2
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.557A>G
  hgvsp: ENST00000433140.1:c.557A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2565A>G
  hgvsp: ENST00000380320.4:c.2565A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5845
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
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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: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6406
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1669
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
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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: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
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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: 1456
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln855Gln
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10402
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

2-27307877-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307877
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307877
    reference: chr 2
allele count: 3
allele frequency: 2.471251112063001e-5
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.567+1G>A
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2575+1G>A
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4027
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6905
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5845
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 579
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53593
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: c.2575+1G>A
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 2.997062878379188e-5
  allele num: 66732
  num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

2-27307878-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307878
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307878
    reference: chr 2
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2575+2T>G
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.567+2T>G
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 6905
  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5846
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53593
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 8.75e1
  variant carriers: 0
hgvs: c.2575+2T>G
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

2-27307879-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307879
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307879
    reference: chr 2
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.567+3G>A
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2575+3G>A
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5846
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
  all individuals: 1199
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53593
  bin: 9.75e1
  variant carriers: 1
hgvs: c.2575+3G>A
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/2-27307884-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307884
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307884
    reference: chr 2
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.567+8C>A
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2575+8C>A
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5847
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1678
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6403
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6549
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1116
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53593
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 8.75e1
  variant carriers: 0
hgvs: c.2575+8C>A
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 908
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

2-27307903-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307903
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307903
    reference: chr 2
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.567+27G>A
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2575+27G>A
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4567
  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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  bin: 2.5e0
  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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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5847
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  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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  bin: 5.25e1
  variant carriers: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.498576352465158e-5
  allele num: 66730
  num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

2-27307903-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307903
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307903
    reference: chr 2
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.567+27G>C
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2575+27G>C
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5847
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4028
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3363
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53594
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  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: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

2-27307916-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307916
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307916
    reference: chr 2
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2575+40A>G
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.567+40A>G
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4032
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6404
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5847
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5562
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4567
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53596
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

2-27307922-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307922
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307922
    reference: chr 2
allele count: 10
allele frequency: 8.238453806989504e-5
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2575+46T>G
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.567+46T>G
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2495
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5559
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3362
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5849
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4568
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6903
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53598
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum

2-27307927-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307927
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307927
    reference: chr 2
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.567+51G>A
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2575+51G>A
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5849
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3364
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5335
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6548
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6405
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5560
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6903
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4569
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53602
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8654
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

2-27307989-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27307989
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27307989
    reference: chr 2
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.568-39C>T
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2576-39C>T
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6788
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2974
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2005
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4535
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3346
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3514
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38657
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66660
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

2-27308010-TCCAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27308010
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27308006
    reference: chr 2
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.568-15_568-12delACCC
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2576-15_2576-12delACCC
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7958
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6779
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1858
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4851
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1999
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3357
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3506
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2978
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3020
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38647
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11570
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: TCCAC
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

2-27308012-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27308012
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27308012
    reference: chr 2
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2576-16C>T
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.568-16C>T
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7146
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6779
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7958
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3897
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1997
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2995
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4801
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2977
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 38646
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3506
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3353
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10372
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/2-27308020-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27308020
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27308020
    reference: chr 2
allele count: 315
allele frequency: 2.597938144329897e-3
allele num: 121250
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2576-8C>A
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.568-8C>A
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7941
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 6765
  bin: 5.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 5386
  bin: 5.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 9.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 9.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6118
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2846
  bin: 6.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 8.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 7.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 8.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 7579
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 7132
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 6.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 7.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3345
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2981
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3492
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4928
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38695
  bin: 9.75e1
  variant carriers: 314
genotype quality: GenotypeQuality
  all individuals: 2973
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
hgvs: c.2576-8C>A
num of homozygotes: 1
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8648
  num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

2-27308022-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 27308022
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 27308022
    reference: chr 2
allele count: 1
allele frequency: 8.247014580721778e-6
allele num: 121256
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000411201
  ensembl transcript: ENST00000433140
  gene symbol: EMILIN1
  hgvsc: ENST00000433140.1:c.568-6A>G
  variant of: http://identifiers.org/hgnc/19880
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138080
  ensembl protein: ENSP00000369677
  ensembl transcript: ENST00000380320
  gene symbol: EMILIN1
  hgvsc: ENST00000380320.4:c.2576-6A>G
  variant of: http://identifiers.org/hgnc/19880
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7609
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2983
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 3003
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3511
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4966
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2004
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 3371
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 38571
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1868
  bin: 7.25e1
  variant carriers: 0
hgvs: c.2576-6A>G
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 906
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff

East Asian
type: Population
allele count: 17
allele frequency: 4.026527711984841e-3
allele num: 4222
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2612
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 31400
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 430
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5378
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

DP
type: SiteQuality
SIO_000300: 6.60131e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

QD
type: SiteQuality
SIO_000300: 1.314e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.42e-2

FS
type: SiteQuality
SIO_000300: 1.729e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4930
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4126
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3834
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7470
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.29318e5

VQSLOD
type: SiteQuality
SIO_000300: -2.767e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.63e-2

QD
type: SiteQuality
SIO_000300: 3.24e0

FS
type: SiteQuality
SIO_000300: 2.616e0

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.89e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3006
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.890173410404624e-4
allele num: 3460
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.026135906714917e-5
allele num: 19896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1546
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.64963503649635e-4
allele num: 2740
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3978
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

QD
type: SiteQuality
SIO_000300: 8.039999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.31e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.5e-2

FS
type: SiteQuality
SIO_000300: 1.092e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-2

DP
type: SiteQuality
SIO_000300: 5.38194e5

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2948
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3750
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.676470588235294e-4
allele num: 2720
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1494
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19216
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.034e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.324e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

QD
type: SiteQuality
SIO_000300: 8.56e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.32e-2

DP
type: SiteQuality
SIO_000300: 5.28984e5

VQSLOD
type: SiteQuality
SIO_000300: -6.502e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2696
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2922
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 5.370569280343716e-4
allele num: 3724
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19072
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 4.201680672268907e-3
allele num: 238
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.1889e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.27e-1

DP
type: SiteQuality
SIO_000300: 5.2625e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.35e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.783e-1

QD
type: SiteQuality
SIO_000300: 1.111e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.55e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18734
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1464
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.787878787878788e-4
allele num: 2640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3250
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 3.821e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.580000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 5.22951e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.41e-2

QD
type: SiteQuality
SIO_000300: 1.493e1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18342
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 3.888024883359253e-4
allele num: 2572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1422
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.51e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.272e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.892e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

DP
type: SiteQuality
SIO_000300: 5.16957e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.041e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15708
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2184
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2522
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 3.623188405797101e-4
allele num: 2760
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

QD
type: SiteQuality
SIO_000300: 1.873e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.09e-2

DP
type: SiteQuality
SIO_000300: 4.73026e5

BaseQRankSum
type: SiteQuality
SIO_000300: 5.46e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.413e0

FS
type: SiteQuality
SIO_000300: 2.057e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1066
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1954
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13820
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.72e-1

QD
type: SiteQuality
SIO_000300: 1.285e1

VQSLOD
type: SiteQuality
SIO_000300: -3.078e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.65e-2

DP
type: SiteQuality
SIO_000300: 4.41649e5

BaseQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

South Asian
type: Population
allele count: 1
allele frequency: 4.370629370629371e-4
allele num: 2288
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13306
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1004
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2290
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.41e-1

QD
type: SiteQuality
SIO_000300: 1.144e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.82e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.383e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.33764e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.83e-2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1568
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 4.854368932038835e-4
allele num: 8240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1296
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.538e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.606e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.443e0

MQRankSum
type: SiteQuality
SIO_000300: -5.46e-1

DP
type: SiteQuality
SIO_000300: 3.36477e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.93e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1106
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7114
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1006
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.16864e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.43e-2

MQ
type: SiteQuality
SIO_000300: 5.616e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.231e0

QD
type: SiteQuality
SIO_000300: 6.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: -2.218e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 914
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1244
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.74e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.338e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.99665e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 432
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.138952164009112e-3
allele num: 878
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 70
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 402
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.945525291828794e-3
allele num: 514
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European (Non-Finnish)
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allele count: 9
allele frequency: 2.511160714285714e-3
allele num: 3584
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MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.74e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.347e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.74e0

DP
type: SiteQuality
SIO_000300: 2.38764e5

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 100
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2804
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 764
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 382
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 48
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QD
type: SiteQuality
SIO_000300: 8.529999999999999e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.43e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.756e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.401e0

DP
type: SiteQuality
SIO_000300: 2.22158e5

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8562
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.597801425238871e-5
allele num: 62586
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 7.279079924297569e-5
allele num: 13738
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8878
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11496
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FS
type: SiteQuality
SIO_000300: 1.784e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.92e-1

DP
type: SiteQuality
SIO_000300: 1.899581e6

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -9.389999999999999e-1

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

African
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allele num: 8878
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Latino
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 8562
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European (Non-Finnish)
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allele count: 6
allele frequency: 9.586808551433228e-5
allele num: 62586
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Other
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allele frequency: 0.0e0
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.94e1

FS
type: SiteQuality
SIO_000300: 1.784e0

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.389999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.92e-1

DP
type: SiteQuality
SIO_000300: 1.899581e6

VQSLOD
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SIO_000300: 1.84e0

QD
type: SiteQuality
SIO_000300: 1.045e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.73e-1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.193357815743254e-5
allele num: 62630
num of homozygotes: 0

South Asian
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East Asian
type: Population
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Other
type: Population
allele count: 0
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allele num: 840
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FS
type: SiteQuality
SIO_000300: 6.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.901993e6

MQRankSum
type: SiteQuality
SIO_000300: 1.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 1.175e1

VQSLOD
type: SiteQuality
SIO_000300: -1.373e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.55e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.359e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13920
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

African
type: Population
allele count: 0
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allele num: 8910
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.054e0

VQSLOD
type: SiteQuality
SIO_000300: -2.018e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.054e0

DP
type: SiteQuality
SIO_000300: 1.909199e6

QD
type: SiteQuality
SIO_000300: 1.484e1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.592863969417012e-5
allele num: 62780
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8564
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8930
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
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South Asian
type: Population
allele count: 0
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allele num: 14230
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VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

MQRankSum
type: SiteQuality
SIO_000300: -2.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

DP
type: SiteQuality
SIO_000300: 1.913177e6

FS
type: SiteQuality
SIO_000300: 5.486e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.38e-1

MQ
type: SiteQuality
SIO_000300: 6.043e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.687e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8928
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62826
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Other
type: Population
allele count: 0
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East Asian
type: Population
allele count: 0
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South Asian
type: Population
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DP
type: SiteQuality
SIO_000300: 1.917326e6

VQSLOD
type: SiteQuality
SIO_000300: 6.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-2

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.689e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

QD
type: SiteQuality
SIO_000300: 1.481e1

Other
type: Population
allele count: 0
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allele num: 862
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15182
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.58267915928083e-5
allele num: 63184
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VQSLOD
type: SiteQuality
SIO_000300: 1.02e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

FS
type: SiteQuality
SIO_000300: 1.338e0

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.464e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

DP
type: SiteQuality
SIO_000300: 1.936091e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.44e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5803280761086e-5
allele num: 63278
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8992
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
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MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 8.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

FS
type: SiteQuality
SIO_000300: 1.768e0

QD
type: SiteQuality
SIO_000300: 1.135e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.219e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

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

East Asian
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Latino
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allele count: 0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 874
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.575646803012637e-5
allele num: 63466
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African
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South Asian
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

East Asian
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allele count: 0
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Other
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
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European (Non-Finnish)
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allele count: 10
allele frequency: 1.572623765490344e-4
allele num: 63588
num of homozygotes: 0

Latino
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South Asian
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.44e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.707e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: 2.22e0

East Asian
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allele count: 0
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African
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Other
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South Asian
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allele count: 0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11522
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.569661580963144e-5
allele num: 63708
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.2e-1

QD
type: SiteQuality
SIO_000300: 9.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.07e-1

DP
type: SiteQuality
SIO_000300: 1.95239e6

Latino
type: Population
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allele num: 11528
num of homozygotes: 0

Other
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African
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East Asian
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allele count: 1
allele frequency: 1.167133520074697e-4
allele num: 8568
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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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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.16e-1

DP
type: SiteQuality
SIO_000300: 1.953521e6

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.93e-1

QD
type: SiteQuality
SIO_000300: 1.354e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e-1

East Asian
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allele count: 0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11522
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.571684531480841e-5
allele num: 63626
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.102779003087781e-4
allele num: 9068
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.8e-1

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.614e1

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

MQ
type: SiteQuality
SIO_000300: 5.96e1

Other
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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num of homozygotes: 0

South Asian
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allele count: 0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9318
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

East Asian
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allele count: 0
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allele num: 8562
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.16e-1

BaseQRankSum
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SIO_000300: 2.53e0

FS
type: SiteQuality
SIO_000300: 4.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.67e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.576e1

DP
type: SiteQuality
SIO_000300: 1.954293e6

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9338
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63980
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.389e0

VQSLOD
type: SiteQuality
SIO_000300: 7.67e-1

QD
type: SiteQuality
SIO_000300: 1.414e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

DP
type: SiteQuality
SIO_000300: 1.95462e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.122268015486449e-5
allele num: 64056
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9416
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MQRankSum
type: SiteQuality
SIO_000300: -4.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

QD
type: SiteQuality
SIO_000300: 1.373e1

MQ
type: SiteQuality
SIO_000300: 5.95e1

DP
type: SiteQuality
SIO_000300: 1.955146e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 5.893e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.34e-1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
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European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.11332503113325e-5
allele num: 64240
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

FS
type: SiteQuality
SIO_000300: 5.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: 5.18e-1

QD
type: SiteQuality
SIO_000300: 1.196e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.948e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

DP
type: SiteQuality
SIO_000300: 1.958157e6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64240
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.074596039363382e-5
allele num: 16462
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

DP
type: SiteQuality
SIO_000300: 1.958157e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.948e0

QD
type: SiteQuality
SIO_000300: 1.196e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64252
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.074596039363382e-5
allele num: 16462
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9738
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DP
type: SiteQuality
SIO_000300: 1.957778e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.05e0

FS
type: SiteQuality
SIO_000300: 4.304e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.11e-1

QD
type: SiteQuality
SIO_000300: 6.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.748e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64254
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.027115858668858e-4
allele num: 9736
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
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South Asian
type: Population
allele count: 1
allele frequency: 6.079766536964981e-5
allele num: 16448
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MQRankSum
type: SiteQuality
SIO_000300: 3.74e-1

DP
type: SiteQuality
SIO_000300: 1.957281e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.423e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 4.066e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.443e0

QD
type: SiteQuality
SIO_000300: 1.082e1

VQSLOD
type: SiteQuality
SIO_000300: 1.65e0

African
type: Population
allele count: 6
allele frequency: 6.160164271047228e-4
allele num: 9740
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.555597038143239e-5
allele num: 64284
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

QD
type: SiteQuality
SIO_000300: 1.37e1

MQRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.14e-1

DP
type: SiteQuality
SIO_000300: 1.956545e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.79e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.558166349839509e-5
allele num: 64178
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
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ReadPosRankSum
type: SiteQuality
SIO_000300: -7.51e-1

FS
type: SiteQuality
SIO_000300: 1.896e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: 9.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.82e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.075e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

DP
type: SiteQuality
SIO_000300: 1.952267e6

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64138
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.93e-1

DP
type: SiteQuality
SIO_000300: 1.950185e6

FS
type: SiteQuality
SIO_000300: 8.603e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.15e-1

QD
type: SiteQuality
SIO_000300: 2.44e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.319e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16366
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 1
allele frequency: 1.025641025641026e-4
allele num: 9750
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.559138108453647e-5
allele num: 64138
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.603e0

DP
type: SiteQuality
SIO_000300: 1.950185e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.78e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

QD
type: SiteQuality
SIO_000300: 2.44e0

VQSLOD
type: SiteQuality
SIO_000300: -1.319e0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.238108605470821e-5
allele num: 64122
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.98e-1

FS
type: SiteQuality
SIO_000300: 5.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.948635e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.355e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 868
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.560598021161709e-5
allele num: 64078
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9748
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
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MQRankSum
type: SiteQuality
SIO_000300: 9.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

DP
type: SiteQuality
SIO_000300: 1.941857e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.877e0

QD
type: SiteQuality
SIO_000300: 1.207e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.103e0

VQSLOD
type: SiteQuality
SIO_000300: 7.39e-1

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
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European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.681794063485128e-5
allele num: 64078
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.16e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.36e1

VQSLOD
type: SiteQuality
SIO_000300: -1.269e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.265e0

FS
type: SiteQuality
SIO_000300: 1.6146e1

DP
type: SiteQuality
SIO_000300: 1.94168e6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.560646732005743e-5
allele num: 64076
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

Latino
type: Population
allele count: 0
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allele num: 11494
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.429e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.746e0

VQSLOD
type: SiteQuality
SIO_000300: -1.636e0

FS
type: SiteQuality
SIO_000300: 6.934e0

DP
type: SiteQuality
SIO_000300: 1.941573e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
SIO_000300: 1.675e1

African
type: Population
allele count: 0
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allele num: 9756
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.122462998813464e-5
allele num: 64052
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

QD
type: SiteQuality
SIO_000300: 1.117e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

FS
type: SiteQuality
SIO_000300: 8.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 1.936692e6

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16102
num of homozygotes: 0

African
type: Population
allele count: 32
allele frequency: 3.284746458632724e-3
allele num: 9742
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63936
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.710801393728223e-5
allele num: 11480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6444
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.983e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.415e0

FS
type: SiteQuality
SIO_000300: 3.681e0

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.33e0

DP
type: SiteQuality
SIO_000300: 1.929272e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 1.115e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16104
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.564602434521388e-5
allele num: 63914
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

DP
type: SiteQuality
SIO_000300: 1.925707e6

FS
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.26e-1

QD
type: SiteQuality
SIO_000300: 1.081e1

Latino
type: Population
allele count: 1
allele frequency: 8.733624454148471e-5
allele num: 11450
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63648
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.030927835051546e-4
allele num: 9700
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.397e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.090000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.894197e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 1.076e1

VQSLOD
type: SiteQuality
SIO_000300: 9.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.968e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6376
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9706
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15940
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.214e1

MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 1.0101e1

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

VQSLOD
type: SiteQuality
SIO_000300: -8.224e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

DP
type: SiteQuality
SIO_000300: 1.890097e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.84e-1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9692
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6364
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.015e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.538e0

DP
type: SiteQuality
SIO_000300: 1.883429e6

VQSLOD
type: SiteQuality
SIO_000300: 5.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.57e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63208
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.753501400560224e-5
allele num: 11424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6288
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.903e0

DP
type: SiteQuality
SIO_000300: 1.82421e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

VQSLOD
type: SiteQuality
SIO_000300: -5.806e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

QD
type: SiteQuality
SIO_000300: 1.793e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62636
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.161222339304531e-4
allele num: 9490
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15248
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.32e-1

MQ
type: SiteQuality
SIO_000300: 5.884e1

VQSLOD
type: SiteQuality
SIO_000300: -2.635e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

QD
type: SiteQuality
SIO_000300: 1.231e1

DP
type: SiteQuality
SIO_000300: 1.779194e6

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.355e1

FS
type: SiteQuality
SIO_000300: 4.587e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.765e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.011e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.54e-1

DP
type: SiteQuality
SIO_000300: 3.85626e6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 3.856326e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.148e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.041e0

MQ
type: SiteQuality
SIO_000300: 5.352e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

FS
type: SiteQuality
SIO_000300: 8.696999999999999e0

QD
type: SiteQuality
SIO_000300: 1.318e1

MQRankSum
type: SiteQuality
SIO_000300: -2.429e0

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 7.26832222895215e-4
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.67e-1

FS
type: SiteQuality
SIO_000300: 2.77e0

QD
type: SiteQuality
SIO_000300: 1.108e1

DP
type: SiteQuality
SIO_000300: 3.856931e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.744e0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 8.992536194958184e-5
allele num: 66722
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.858384e6

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.855e0

FS
type: SiteQuality
SIO_000300: 4.276e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.14e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-2

MQ
type: SiteQuality
SIO_000300: 5.941e1

QD
type: SiteQuality
SIO_000300: 1.061e1

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496268097479092e-5
allele num: 66722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 3.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e-2

QD
type: SiteQuality
SIO_000300: 1.454e1

MQRankSum
type: SiteQuality
SIO_000300: -1.59e-1

DP
type: SiteQuality
SIO_000300: 3.859206e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.76e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.558e0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.896e1

DP
type: SiteQuality
SIO_000300: 3.85939e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.402e0

VQSLOD
type: SiteQuality
SIO_000300: -8.514e-1

FS
type: SiteQuality
SIO_000300: 5.702e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.769e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

QD
type: SiteQuality
SIO_000300: 1.212e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 3.859534e6

VQSLOD
type: SiteQuality
SIO_000300: -3.026e0

FS
type: SiteQuality
SIO_000300: 2.456e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.095e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.1e-1

QD
type: SiteQuality
SIO_000300: 2.74e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.346e0

QD
type: SiteQuality
SIO_000300: 1.199e1

MQRankSum
type: SiteQuality
SIO_000300: -2.92e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.361e0

FS
type: SiteQuality
SIO_000300: 3.338e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 3.859725e6

VQSLOD
type: SiteQuality
SIO_000300: 7.37e-1

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Other
type: Population
allele count: 0
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East Asian
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MQRankSum
type: SiteQuality
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QD
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.014e1

VQSLOD
type: SiteQuality
SIO_000300: 4.92e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.79e-1

Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

Other
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allele num: 908
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
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East Asian
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African
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MQ
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -5.945e-1

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
allele num: 11574
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DP
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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QD
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

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

Latino
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allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

Other
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

African
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allele frequency: 0.0e0
allele num: 10402
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Latino
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allele num: 11574
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8654
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

South Asian
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VQSLOD
type: SiteQuality
SIO_000300: 3.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

DP
type: SiteQuality
SIO_000300: 3.86134e6

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.424e0

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.011e0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.436e1

MQRankSum
type: SiteQuality
SIO_000300: -9.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.88e-1

MQ
type: SiteQuality
SIO_000300: 5.912e1

DP
type: SiteQuality
SIO_000300: 3.861327e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.405e0

FS
type: SiteQuality
SIO_000300: 7.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e0

VQSLOD
type: SiteQuality
SIO_000300: -7.21e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66732
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.861346e6

FS
type: SiteQuality
SIO_000300: 3.116e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.729e1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.568e0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.56e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.065e1

MQRankSum
type: SiteQuality
SIO_000300: 8.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.809e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 3.815e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e-2

MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.861401e6

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
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African
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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 (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.38e-1

ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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South Asian
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East Asian
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num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.94e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

Other
type: Population
allele count: 0
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allele num: 908
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East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66722
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

DP
type: SiteQuality
SIO_000300: 3.861136e6

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.968e1

QD
type: SiteQuality
SIO_000300: 1.224e1

VQSLOD
type: SiteQuality
SIO_000300: 5.8e-1

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

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

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8654
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European (Non-Finnish)
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allele count: 9
allele frequency: 1.348920863309352e-4
allele num: 66720
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.861403e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.67e-1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
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South Asian
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allele count: 0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10400
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
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allele count: 0
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Other
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allele count: 0
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allele num: 908
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.22e-1

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

QD
type: SiteQuality
SIO_000300: 1.439e1

Other
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European (Finnish)
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East Asian
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African
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Latino
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South Asian
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66652
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European (Finnish)
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allele count: 0
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allele num: 6614
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South Asian
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allele frequency: 6.056935190793458e-5
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African
type: Population
allele count: 0
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Other
type: Population
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.52e-2

FS
type: SiteQuality
SIO_000300: 9.73e-1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.429e1

QD
type: SiteQuality
SIO_000300: 1.323e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

DP
type: SiteQuality
SIO_000300: 2.991559e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

Latino
type: Population
allele count: 0
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South Asian
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allele count: 1
allele frequency: 6.05766900896535e-5
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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
allele frequency: 0.0e0
allele num: 8648
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66648
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Other
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.22e-2

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 5.871e1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.359e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

South Asian
type: Population
allele count: 55
allele frequency: 3.331717954930943e-3
allele num: 16508
num of homozygotes: 1

African
type: Population
allele count: 8
allele frequency: 7.716049382716049e-4
allele num: 10368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 22
allele frequency: 3.326277592984578e-3
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 205
allele frequency: 3.076322818812089e-3
allele num: 66638
num of homozygotes: 0

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

Latino
type: Population
allele count: 25
allele frequency: 2.161134163208852e-3
allele num: 11568
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.389e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.900000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.77e-1

FS
type: SiteQuality
SIO_000300: 5.3e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 4.53e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.727e0

DP
type: SiteQuality
SIO_000300: 2.995107e6

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e0

DP
type: SiteQuality
SIO_000300: 2.987431e6

QD
type: SiteQuality
SIO_000300: 1.241e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.78e-2