5-127681225-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127681225
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127681225
    reference: chr 5
allele count: 14
allele frequency: 1.154562997905293e-4
allele num: 121258
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.3041A>C
  hgvsp: ENSP00000262464.4:p.His1014Pro
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.3041A>C
  hgvsp: ENSP00000424571.1:p.His1014Pro
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2942A>C
  hgvsp: ENSP00000425596.1:p.His981Pro
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3600
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5188
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1840
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20772
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26784
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3382
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2521
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2596
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7127
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14922
  bin: 9.75e1
  variant carriers: 14
hgvs: p.His1014Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

5-127681226-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127681226
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127681226
    reference: chr 5
allele count: 2
allele frequency: 1.649375711293276e-5
allele num: 121258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2941C>T
  hgvsp: ENSP00000425596.1:p.His981Tyr
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.3040C>T
  hgvsp: ENSP00000424571.1:p.His1014Tyr
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.3040C>T
  hgvsp: ENSP00000262464.4:p.His1014Tyr
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2519
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2595
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14909
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7135
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26797
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His1014Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

5-127681232-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127681232
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127681232
    reference: chr 5
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.3034T>A
  hgvsp: ENSP00000424571.1:p.Cys1012Ser
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.3034T>A
  hgvsp: ENSP00000262464.4:p.Cys1012Ser
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2935T>A
  hgvsp: ENSP00000425596.1:p.Cys979Ser
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5187
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2596
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3381
  bin: 7.75e1
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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: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 14906
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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: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26778
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Cys1012Ser
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

5-127681237-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127681237
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127681237
    reference: chr 5
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.3029A>G
  hgvsp: ENSP00000262464.4:p.Asp1010Gly
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2930A>G
  hgvsp: ENSP00000425596.1:p.Asp977Gly
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.3029A>G
  hgvsp: ENSP00000424571.1:p.Asp1010Gly
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2545
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3601
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14906
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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
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26791
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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: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
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genotype quality: GenotypeQuality
  all individuals: 2514
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genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2594
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp1010Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

5-127681251-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127681251
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127681251
    reference: chr 5
allele count: 1779
allele frequency: 1.467991352136385e-2
allele num: 121186
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.3015G>A
  hgvsp: ENST00000262464.4:c.3015G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.3015G>A
  hgvsp: ENST00000508053.1:c.3015G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2916G>A
  hgvsp: ENST00000508989.1:c.2916G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20630
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 5.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 4.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 5.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5062
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 12259
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 9.75e1
  variant carriers: 1039
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 6.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 6.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 4.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 8.25e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.75e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 8.75e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 9.25e1
  variant carriers: 112
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7067
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3325
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2554
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15291
  bin: 9.75e1
  variant carriers: 1758
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26636
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu1005Leu
num of homozygotes: 20
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum

5-127681252-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127681252
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127681252
    reference: chr 5
allele count: 1
allele frequency: 8.25300409349003e-6
allele num: 121168
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.3014T>C
  hgvsp: ENSP00000424571.1:p.Leu1005Ser
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.3014T>C
  hgvsp: ENSP00000262464.4:p.Leu1005Ser
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2915T>C
  hgvsp: ENSP00000425596.1:p.Leu972Ser
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13913
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27409
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3417
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2636
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2553
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7291
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu1005Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum

5-127681253-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127681253
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127681253
    reference: chr 5
allele count: 32
allele frequency: 2.641179286551445e-4
allele num: 121158
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2914T>C
  hgvsp: ENST00000508989.1:c.2914T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.3013T>C
  hgvsp: ENST00000262464.4:c.3013T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.3013T>C
  hgvsp: ENST00000508053.1:c.3013T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 9.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21240
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2635
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13917
  bin: 9.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27408
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7291
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3417
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2552
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu1005Leu
num of homozygotes: 1
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

5-127681254-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127681254
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127681254
    reference: chr 5
allele count: 2
allele frequency: 1.650873311982039e-5
allele num: 121148
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.3012C>T
  hgvsp: ENST00000508053.1:c.3012C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.3012C>T
  hgvsp: ENST00000262464.4:c.3012C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2913C>T
  hgvsp: ENST00000508989.1:c.2913C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2636
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13897
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 7293
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2552
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3416
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Tyr1004Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

5-127681255-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127681255
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127681255
    reference: chr 5
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.3011A>T
  hgvsp: ENSP00000424571.1:p.Tyr1004Phe
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2912A>T
  hgvsp: ENSP00000425596.1:p.Tyr971Phe
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.3011A>T
  hgvsp: ENSP00000262464.4:p.Tyr1004Phe
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7292
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2636
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13895
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27414
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3416
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Tyr1004Phe
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

5-127681255-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127681255
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127681254
    reference: chr 5
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.3010delT
  hgvsp: ENSP00000424571.1:p.Tyr1004ThrfsTer2
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.3010delT
  hgvsp: ENSP00000262464.4:p.Tyr1004ThrfsTer2
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2911delT
  hgvsp: ENSP00000425596.1:p.Tyr971ThrfsTer2
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2550
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 27414
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
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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: 0
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7292
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3416
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
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genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13895
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr1004ThrfsTer2
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: TA
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

5-127681261-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127681261
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127681261
    reference: chr 5
allele count: 1
allele frequency: 8.258320257659592e-6
allele num: 121090
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.3005A>G
  hgvsp: ENSP00000262464.4:p.Gln1002Arg
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2906A>G
  hgvsp: ENSP00000425596.1:p.Gln969Arg
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.3005A>G
  hgvsp: ENSP00000424571.1:p.Gln1002Arg
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
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genotype quality: GenotypeQuality
  all individuals: 27331
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 13892
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln1002Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

5-127681262-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127681262
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127681262
    reference: chr 5
allele count: 1
allele frequency: 8.259275166011431e-6
allele num: 121076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2905C>T
  hgvsp: ENSP00000425596.1:p.Gln969Ter
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.3004C>T
  hgvsp: ENSP00000424571.1:p.Gln1002Ter
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.3004C>T
  hgvsp: ENSP00000262464.4:p.Gln1002Ter
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13891
  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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 8.75e1
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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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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln1002Ter
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP

5-127681262-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127681262
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127681262
    reference: chr 5
allele count: 1
allele frequency: 8.259275166011431e-6
allele num: 121076
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.3004C>G
  hgvsp: ENSP00000424571.1:p.Gln1002Glu
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2905C>G
  hgvsp: ENSP00000425596.1:p.Gln969Glu
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.3004C>G
  hgvsp: ENSP00000262464.4:p.Gln1002Glu
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12622
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2547
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 265
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27322
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3412
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2634
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7272
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gln1002Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD

5-127681274-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127681274
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127681274
    reference: chr 5
allele count: 1
allele frequency: 8.274857672448034e-6
allele num: 120848
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2992A>G
  hgvsp: ENSP00000262464.4:p.Ile998Val
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2992A>G
  hgvsp: ENSP00000424571.1:p.Ile998Val
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2893A>G
  hgvsp: ENSP00000425596.1:p.Ile965Val
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12576
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5227
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27020
  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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 2625
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1957
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genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1222
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13884
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile998Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

5-127681275-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127681275
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127681275
    reference: chr 5
allele count: 1
allele frequency: 8.275679433281473e-6
allele num: 120836
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2991T>C
  hgvsp: ENST00000508053.1:c.2991T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2892T>C
  hgvsp: ENST00000508989.1:c.2892T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2991T>C
  hgvsp: ENST00000262464.4:c.2991T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6764
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 5.25e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 20
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3
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genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
hgvs: c.2991T>C
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum

5-127681284-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127681284
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127681284
    reference: chr 5
allele count: 7
allele frequency: 5.814243234712693e-5
allele num: 120394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2990-8C>T
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2891-8C>T
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2990-8C>T
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20771
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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
  all individuals: 2815
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
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genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 573
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
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genotype quality: GenotypeQuality
  all individuals: 290
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1951
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 55
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 7.25e1
  variant carriers: 0
hgvs: c.2990-8C>T
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum

5-127681289-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127681289
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127681289
    reference: chr 5
allele count: 3
allele frequency: 2.496878901373283e-5
allele num: 120150
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2990-13G>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2990-13G>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2891-13G>A
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 112
  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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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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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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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 471
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1947
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3348
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-127681290-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127681290
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127681290
    reference: chr 5
allele count: 4
allele frequency: 3.332500208281263e-5
allele num: 120030
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2990-14C>T
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2990-14C>T
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2891-14C>T
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2453
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 304
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/5-127681293-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127681293
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127681293
    reference: chr 5
allele count: 1
allele frequency: 8.336668000533546e-6
allele num: 119952
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2990-17T>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2990-17T>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2891-17T>G
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  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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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  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
  all individuals: 421
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
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genotype depth: GenotypeDepth
  all individuals: 365
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
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genotype depth: GenotypeDepth
  all individuals: 20171
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 377
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

5-127681297-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127681297
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127681297
    reference: chr 5
allele count: 1
allele frequency: 8.346966712296751e-6
allele num: 119804
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2990-21G>C
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2990-21G>C
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2891-21G>C
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
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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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2410
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

5-127681305-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127681305
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127681305
    reference: chr 5
allele count: 21
allele frequency: 1.758587770278192e-4
allele num: 119414
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2990-29C>T
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2990-29C>T
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2891-29C>T
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2410
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4528
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9924
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3988
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6347
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.5e0
  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: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21053
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2312
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1451
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5797
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

5-127681307-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127681307
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127681307
    reference: chr 5
allele count: 4
allele frequency: 3.350195986465208e-5
allele num: 119396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2990-31T>C
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2891-31T>C
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2990-31T>C
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17660
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9680
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.75e1
  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
  all individuals: 1927
  bin: 9.25e1
  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
  all individuals: 2281
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 20950
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genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 61
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD

5-127681311-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127681311
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127681311
    reference: chr 5
allele count: 11
allele frequency: 9.224782798295931e-5
allele num: 119244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2990-35C>T
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2990-35C>T
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2891-35C>T
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 570
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4452
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1691
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9241
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2027
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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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
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genotype quality: GenotypeQuality
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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: 13830
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD

5-127681318-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127681318
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127681318
    reference: chr 5
allele count: 1
allele frequency: 8.415524960447032e-6
allele num: 118828
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2990-42G>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2891-42G>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2990-42G>A
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8286
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8094
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  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
  all individuals: 13818
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

5-127681324-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127681324
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127681324
    reference: chr 5
allele count: 1
allele frequency: 8.442523301364311e-6
allele num: 118448
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2990-48A>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2990-48A>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2891-48A>G
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8240
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4285
  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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  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
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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: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 13813
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2327
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3018
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2235
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10115
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4300
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4624
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

5-127681325-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127681325
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127681325
    reference: chr 5
allele count: 1
allele frequency: 8.450942280064228e-6
allele num: 118330
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2990-49A>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2990-49A>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2891-49A>G
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1272
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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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11024
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3783
  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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 3570
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3054
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2340
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 8.25e1
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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: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP

5-127681326-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127681326
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127681326
    reference: chr 5
allele count: 2
allele frequency: 1.691818366380186e-5
allele num: 118216
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2990-50C>T
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2891-50C>T
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2990-50C>T
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8204
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11304
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.25e1
  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: 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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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3073
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

5-127684996-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127684996
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127684996
    reference: chr 5
allele count: 120
allele frequency: 9.913586570394727e-4
allele num: 121046
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2989+43A>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2989+43A>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2890+43A>G
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 713
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
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  variant carriers: 5
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 12
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: 5
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
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  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
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genotype quality: GenotypeQuality
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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: 120
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

5-127685001-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685001
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685001
    reference: chr 5
allele count: 53
allele frequency: 4.375608870102208e-4
allele num: 121126
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2989+38A>C
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2890+38A>C
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2989+38A>C
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
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  variant carriers: 7
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 8
genotype depth: GenotypeDepth
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  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
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genotype quality: GenotypeQuality
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  variant carriers: 0
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3669
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4321
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6678
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19488
  bin: 9.75e1
  variant carriers: 54
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3389
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

5-127685002-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685002
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685002
    reference: chr 5
allele count: 877
allele frequency: 7.402842961812472e-3
allele num: 118468
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2989+37C>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2989+37C>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2890+37C>A
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 8901
  bin: 3.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 5.75e1
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.75e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 6.75e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 11360
  bin: 3.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 5.25e1
  variant carriers: 127
genotype depth: GenotypeDepth
  all individuals: 4851
  bin: 2.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 8.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 4.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 12134
  bin: 2.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 7.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 6.25e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 4.25e1
  variant carriers: 114
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 9.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 9.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 3234
  bin: 9.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 4.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 4121
  bin: 8.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 3.25e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.5e0
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 19133
  bin: 9.75e1
  variant carriers: 343
genotype quality: GenotypeQuality
  all individuals: 6339
  bin: 6.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 2.5e0
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 2.75e1
  variant carriers: 55
genotype quality: GenotypeQuality
  all individuals: 4648
  bin: 7.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 12057
  bin: 6.25e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 2382
  bin: 8.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 4.25e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 3528
  bin: 7.25e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 5.25e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 3.75e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 1.75e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.25e1
  variant carriers: 46
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

5-127685003-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685003
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685003
    reference: chr 5
allele count: 1
allele frequency: 8.255865792645674e-6
allele num: 121126
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2989+36A>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2989+36A>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2890+36A>G
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12443
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3611
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3734
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4345
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12745
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2499
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4927
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19537
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

5-127685007-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685007
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685007
    reference: chr 5
allele count: 41
allele frequency: 3.400909121072365e-4
allele num: 120556
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2989+32T>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2890+32T>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2989+32T>A
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11515
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12550
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8932
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5359
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6092
  bin: 4.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2432
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3621
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 19307
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6522
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4218
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3300
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12395
  bin: 6.25e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS

5-127685008-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685008
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685008
    reference: chr 5
allele count: 3
allele frequency: 2.476432616268511e-5
allele num: 121142
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2890+31A>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2989+31A>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2989+31A>G
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3517
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8898
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4349
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3393
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19483
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3788
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13002
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6819
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

5-127685011-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685011
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685011
    reference: chr 5
allele count: 1
allele frequency: 8.252867871585376e-6
allele num: 121170
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2989+28T>C
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2989+28T>C
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2890+28T>C
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11554
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3810
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6939
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2505
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19482
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3390
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4936
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13553
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

5-127685012-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685012
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685012
    reference: chr 5
allele count: 1
allele frequency: 8.25300409349003e-6
allele num: 121168
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2989+27A>T
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2890+27A>T
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2989+27A>T
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8880
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 4.75e1
  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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 19482
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 134
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genotype quality: GenotypeQuality
  all individuals: 296
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 13760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3389
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

5-127685012-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685012
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685012
    reference: chr 5
allele count: 6
allele frequency: 4.951802456094018e-5
allele num: 121168
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2890+27A>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2989+27A>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2989+27A>G
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6050
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 631
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 19482
  bin: 9.75e1
  variant carriers: 6
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

5-127685019-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685019
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685019
    reference: chr 5
allele count: 8
allele frequency: 6.602185323342026e-5
allele num: 121172
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2989+20G>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2890+20G>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2989+20G>A
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  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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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: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11603
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6054
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14111
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

5-127685021-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685021
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685021
    reference: chr 5
allele count: 1
allele frequency: 8.251233559417133e-6
allele num: 121194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2890+18A>T
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2989+18A>T
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2989+18A>T
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11590
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1891
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5987
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4360
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4969
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3830
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3393
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19479
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14287
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7010
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP

5-127685025-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685025
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685025
    reference: chr 5
allele count: 2
allele frequency: 1.649974425396406e-5
allele num: 121214
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2890+14C>T
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2989+14C>T
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2989+14C>T
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19474
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2513
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4972
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3397
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

5-127685026-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685026
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685026
    reference: chr 5
allele count: 2
allele frequency: 1.649974425396406e-5
allele num: 121214
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2989+13C>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2890+13C>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2989+13C>A
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12987
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6053
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1890
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3960
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8895
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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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: 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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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 19477
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3844
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

5-127685049-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685049
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685049
    reference: chr 5
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2979T>A
  hgvsp: ENST00000262464.4:c.2979T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2979T>A
  hgvsp: ENST00000508053.1:c.2979T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2880T>A
  hgvsp: ENST00000508989.1:c.2880T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13354
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6028
  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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
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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
  all individuals: 524
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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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  bin: 5.25e1
  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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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1
genotype quality: GenotypeQuality
  all individuals: 4364
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg993Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

5-127685050-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685050
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685050
    reference: chr 5
allele count: 6
allele frequency: 4.946169191960826e-5
allele num: 121306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2978G>A
  hgvsp: ENSP00000262464.4:p.Arg993His
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2978G>A
  hgvsp: ENSP00000424571.1:p.Arg993His
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2879G>A
  hgvsp: ENSP00000425596.1:p.Arg960His
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3525
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11653
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
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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: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6034
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8866
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3873
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4980
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3365
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14660
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19487
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4357
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg993His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

5-127685051-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685051
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685051
    reference: chr 5
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2977C>T
  hgvsp: ENSP00000262464.4:p.Arg993Cys
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2878C>T
  hgvsp: ENSP00000425596.1:p.Arg960Cys
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2977C>T
  hgvsp: ENSP00000424571.1:p.Arg993Cys
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13372
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4355
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2500
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genotype quality: GenotypeQuality
  all individuals: 39
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genotype quality: GenotypeQuality
  all individuals: 94
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genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 3363
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 3874
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19484
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4980
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg993Cys
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

5-127685052-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685052
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685052
    reference: chr 5
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2976C>T
  hgvsp: ENST00000508053.1:c.2976C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2877C>T
  hgvsp: ENST00000508989.1:c.2877C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2976C>T
  hgvsp: ENST00000262464.4:c.2976C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11641
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3524
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 591
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 2500
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 44
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genotype quality: GenotypeQuality
  all individuals: 14702
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genotype quality: GenotypeQuality
  all individuals: 33
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genotype quality: GenotypeQuality
  all individuals: 26
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genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 19484
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4355
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genotype quality: GenotypeQuality
  all individuals: 7059
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3364
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly992Gly
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD

5-127685060-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685060
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685060
    reference: chr 5
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2869G>A
  hgvsp: ENSP00000425596.1:p.Gly957Arg
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2968G>A
  hgvsp: ENSP00000262464.4:p.Gly990Arg
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2968G>A
  hgvsp: ENSP00000424571.1:p.Gly990Arg
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13429
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 34
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
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genotype depth: GenotypeDepth
  all individuals: 6038
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8868
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 44
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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: 81
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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
  all individuals: 19483
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genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly990Arg
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/5-127685067-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685067
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685067
    reference: chr 5
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2961G>T
  hgvsp: ENST00000508053.1:c.2961G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2862G>T
  hgvsp: ENST00000508989.1:c.2862G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2961G>T
  hgvsp: ENST00000262464.4:c.2961G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3368
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4355
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4970
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14693
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7038
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19483
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2494
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr987Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

5-127685067-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685067
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685067
    reference: chr 5
allele count: 4
allele frequency: 3.296739524610161e-5
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2862G>A
  hgvsp: ENST00000508989.1:c.2862G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2961G>A
  hgvsp: ENST00000508053.1:c.2961G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2961G>A
  hgvsp: ENST00000262464.4:c.2961G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8864
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11642
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13431
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7038
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14693
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2494
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3860
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 4355
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3368
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19483
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4970
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr987Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-127685068-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685068
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685068
    reference: chr 5
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2861C>T
  hgvsp: ENSP00000425596.1:p.Thr954Met
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2960C>T
  hgvsp: ENSP00000424571.1:p.Thr987Met
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2960C>T
  hgvsp: ENSP00000262464.4:p.Thr987Met
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6031
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2492
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3857
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3367
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7025
  bin: 6.75e1
  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
  all individuals: 4968
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 4353
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14712
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr987Met
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

5-127685068-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685068
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685068
    reference: chr 5
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2861C>G
  hgvsp: ENSP00000425596.1:p.Thr954Arg
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2960C>G
  hgvsp: ENSP00000262464.4:p.Thr987Arg
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2960C>G
  hgvsp: ENSP00000424571.1:p.Thr987Arg
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13422
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6031
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7025
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 4968
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 2492
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 3367
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 41
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genotype quality: GenotypeQuality
  all individuals: 14712
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3857
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4353
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr987Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-127685085-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685085
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685085
    reference: chr 5
allele count: 3
allele frequency: 2.472839974282464e-5
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2943G>T
  hgvsp: ENSP00000262464.4:p.Glu981Asp
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2943G>T
  hgvsp: ENSP00000424571.1:p.Glu981Asp
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2844G>T
  hgvsp: ENSP00000425596.1:p.Glu948Asp
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11531
  bin: 3.25e1
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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
  all individuals: 542
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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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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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3368
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3819
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 14344
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19474
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 4341
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu981Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

5-127685087-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685087
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685087
    reference: chr 5
allele count: 5
allele frequency: 4.121875618281343e-5
allele num: 121304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2842G>A
  hgvsp: ENSP00000425596.1:p.Glu948Lys
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2941G>A
  hgvsp: ENSP00000262464.4:p.Glu981Lys
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2941G>A
  hgvsp: ENSP00000424571.1:p.Glu981Lys
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 8857
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  variant carriers: 1
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: 8.25e1
  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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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
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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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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 168
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 14195
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 180
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6885
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu981Lys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

5-127685088-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685088
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685088
    reference: chr 5
allele count: 120
allele frequency: 9.89299081600686e-4
allele num: 121298
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2940C>T
  hgvsp: ENST00000262464.4:c.2940C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2940C>T
  hgvsp: ENST00000508053.1:c.2940C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2841C>T
  hgvsp: ENST00000508989.1:c.2841C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 8858
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 544
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  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11504
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 582
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  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 185
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genotype quality: GenotypeQuality
  all individuals: 19530
  bin: 9.75e1
  variant carriers: 119
hgvs: p.Cys980Cys
num of homozygotes: 1
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

5-127685094-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685094
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685094
    reference: chr 5
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2835T>A
  hgvsp: ENSP00000425596.1:p.Phe945Leu
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2934T>A
  hgvsp: ENSP00000424571.1:p.Phe978Leu
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2934T>A
  hgvsp: ENSP00000262464.4:p.Phe978Leu
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1873
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
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genotype depth: GenotypeDepth
  all individuals: 590
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11445
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genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
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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genotype depth: GenotypeDepth
  all individuals: 523
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genotype quality: GenotypeQuality
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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: 3367
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3794
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Phe978Leu
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

5-127685111-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685111
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685111
    reference: chr 5
allele count: 1
allele frequency: 8.245926512302922e-6
allele num: 121272
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2917A>G
  hgvsp: ENSP00000424571.1:p.Asn973Asp
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2818A>G
  hgvsp: ENSP00000425596.1:p.Asn940Asp
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2917A>G
  hgvsp: ENSP00000262464.4:p.Asn973Asp
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8822
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3511
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 614
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.25e1
  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: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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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
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4311
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3361
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3765
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn973Asp
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS

5-127685118-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685118
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685118
    reference: chr 5
allele count: 1
allele frequency: 8.246334504312833e-6
allele num: 121266
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2910C>G
  hgvsp: ENST00000262464.4:c.2910C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2811C>G
  hgvsp: ENST00000508989.1:c.2811C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2910C>G
  hgvsp: ENST00000508053.1:c.2910C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6280
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genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
  all individuals: 731
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 4312
  bin: 8.25e1
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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: 11
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genotype quality: GenotypeQuality
  all individuals: 341
  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 493
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genotype quality: GenotypeQuality
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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: 231
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg970Arg
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-127685119-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685119
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685119
    reference: chr 5
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2909G>T
  hgvsp: ENSP00000424571.1:p.Arg970Leu
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2810G>T
  hgvsp: ENSP00000425596.1:p.Arg937Leu
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2909G>T
  hgvsp: ENSP00000262464.4:p.Arg970Leu
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11124
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.75e1
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genotype depth: GenotypeDepth
  all individuals: 614
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genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 16
  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
  all individuals: 409
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genotype quality: GenotypeQuality
  all individuals: 271
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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: 498
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genotype quality: GenotypeQuality
  all individuals: 4823
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 335
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genotype quality: GenotypeQuality
  all individuals: 4306
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 225
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3713
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg970Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

5-127685119-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685119
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685119
    reference: chr 5
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2810G>A
  hgvsp: ENSP00000425596.1:p.Arg937His
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2909G>A
  hgvsp: ENSP00000262464.4:p.Arg970His
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2909G>A
  hgvsp: ENSP00000424571.1:p.Arg970His
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8815
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 9.75e1
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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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6294
  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 731
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
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genotype quality: GenotypeQuality
  all individuals: 3713
  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
  all individuals: 498
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genotype quality: GenotypeQuality
  all individuals: 271
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg970His
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

5-127685120-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685120
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685120
    reference: chr 5
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2908C>T
  hgvsp: ENSP00000262464.4:p.Arg970Cys
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2908C>T
  hgvsp: ENSP00000424571.1:p.Arg970Cys
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2809C>T
  hgvsp: ENSP00000425596.1:p.Arg937Cys
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11116
  bin: 3.25e1
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genotype depth: GenotypeDepth
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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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genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3367
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4315
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19480
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6543
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4821
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3695
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12999
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2478
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg970Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS

5-127685126-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685126
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685126
    reference: chr 5
allele count: 5
allele frequency: 4.123643321347277e-5
allele num: 121252
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2902A>G
  hgvsp: ENSP00000262464.4:p.Asn968Asp
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2803A>G
  hgvsp: ENSP00000425596.1:p.Asn935Asp
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2902A>G
  hgvsp: ENSP00000424571.1:p.Asn968Asp
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8806
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3714
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6527
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4334
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12610
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19492
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4836
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 526
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2482
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn968Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

5-127685127-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685127
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685127
    reference: chr 5
allele count: 4
allele frequency: 3.298751422586551e-5
allele num: 121258
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2901A>G
  hgvsp: ENST00000262464.4:c.2901A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2802A>G
  hgvsp: ENST00000508989.1:c.2802A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2901A>G
  hgvsp: ENST00000508053.1:c.2901A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8803
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6018
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11024
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11751
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4337
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3367
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 12640
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 3715
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genotype quality: GenotypeQuality
  all individuals: 19493
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  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4833
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2482
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6522
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro967Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS

5-127685128-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685128
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685128
    reference: chr 5
allele count: 4
allele frequency: 3.299567756623883e-5
allele num: 121228
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2900C>G
  hgvsp: ENSP00000262464.4:p.Pro967Arg
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2801C>G
  hgvsp: ENSP00000425596.1:p.Pro934Arg
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2900C>G
  hgvsp: ENSP00000424571.1:p.Pro967Arg
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11686
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8816
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11035
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12518
  bin: 6.25e1
  variant carriers: 0
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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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19494
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro967Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

5-127685135-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685135
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685135
    reference: chr 5
allele count: 87496
allele frequency: 7.233944043918249e-1
allele num: 120952
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2893G>A
  hgvsp: ENSP00000262464.4:p.Val965Ile
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2893G>A
  hgvsp: ENSP00000424571.1:p.Val965Ile
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2794G>A
  hgvsp: ENSP00000425596.1:p.Val932Ile
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 7.25e1
  variant carriers: 562
genotype depth: GenotypeDepth
  all individuals: 4334
  bin: 2.25e1
  variant carriers: 3267
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.75e1
  variant carriers: 435
genotype depth: GenotypeDepth
  all individuals: 5141
  bin: 4.75e1
  variant carriers: 5071
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 1.75e1
  variant carriers: 1209
genotype depth: GenotypeDepth
  all individuals: 7958
  bin: 2.75e1
  variant carriers: 5757
genotype depth: GenotypeDepth
  all individuals: 8391
  bin: 3.25e1
  variant carriers: 7631
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 9.25e1
  variant carriers: 397
genotype depth: GenotypeDepth
  all individuals: 7091
  bin: 4.25e1
  variant carriers: 6951
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8399
  bin: 3.75e1
  variant carriers: 8196
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 6.25e1
  variant carriers: 1073
genotype depth: GenotypeDepth
  all individuals: 8526
  bin: 9.75e1
  variant carriers: 8292
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.25e1
  variant carriers: 269
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 8.25e1
  variant carriers: 396
genotype depth: GenotypeDepth
  all individuals: 3173
  bin: 5.25e1
  variant carriers: 3123
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 5.75e1
  variant carriers: 1825
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 6.75e1
  variant carriers: 708
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 8.75e1
  variant carriers: 362
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 8.75e1
  variant carriers: 849
genotype quality: GenotypeQuality
  all individuals: 3718
  bin: 6.25e1
  variant carriers: 789
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 9.25e1
  variant carriers: 1701
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.25e1
  variant carriers: 76
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.75e1
  variant carriers: 174
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 1612
  bin: 6.75e1
  variant carriers: 994
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 5.25e1
  variant carriers: 430
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 7.75e1
  variant carriers: 1286
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 5.75e1
  variant carriers: 394
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 186
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.75e1
  variant carriers: 49
genotype quality: GenotypeQuality
  all individuals: 788
  bin: 7.25e1
  variant carriers: 644
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 4.75e1
  variant carriers: 300
genotype quality: GenotypeQuality
  all individuals: 46645
  bin: 9.75e1
  variant carriers: 46007
hgvs: p.Val965Ile
num of homozygotes: 32094
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

5-127685136-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685136
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685136
    reference: chr 5
allele count: 1
allele frequency: 8.363161944267889e-6
allele num: 119572
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2793C>T
  hgvsp: ENST00000508989.1:c.2793C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2892C>T
  hgvsp: ENST00000262464.4:c.2892C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2892C>T
  hgvsp: ENST00000508053.1:c.2892C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 781
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26478
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34593
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8669
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7433
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly964Gly
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

5-127685154-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685154
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685154
    reference: chr 5
allele count: 5
allele frequency: 4.232768399844234e-5
allele num: 118126
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2874G>A
  hgvsp: ENST00000262464.4:c.2874G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2775G>A
  hgvsp: ENST00000508989.1:c.2775G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2874G>A
  hgvsp: ENST00000508053.1:c.2874G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1604
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24985
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3281
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1633
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34360
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8603
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6707
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 521
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu958Glu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD

5-127685163-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685163
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685163
    reference: chr 5
allele count: 1
allele frequency: 8.564136820649846e-6
allele num: 116766
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2865T>C
  hgvsp: ENST00000508053.1:c.2865T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2865T>C
  hgvsp: ENST00000262464.4:c.2865T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2766T>C
  hgvsp: ENST00000508989.1:c.2766T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4619
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23599
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32060
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5067
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6452
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8585
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 8.25e1
  variant carriers: 0
hgvs: c.2865T>C
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

5-127685168-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685168
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685168
    reference: chr 5
allele count: 2
allele frequency: 1.731212021536278e-5
allele num: 115526
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2864-4G>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2765-4G>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2864-4G>A
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6427
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2947
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 3.25e1
  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: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6711
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 920
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 9.25e1
  variant carriers: 0
hgvs: c.2864-4G>A
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

5-127685170-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685170
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685170
    reference: chr 5
allele count: 1
allele frequency: 8.659358168372561e-6
allele num: 115482
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2864-6C>T
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2765-6C>T
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2864-6C>T
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11907
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  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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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 8579
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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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: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30785
  bin: 6.25e1
  variant carriers: 0
hgvs: c.2864-6C>T
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

5-127685181-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685181
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685181
    reference: chr 5
allele count: 1
allele frequency: 8.839857147908491e-6
allele num: 113124
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2864-17G>C
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2864-17G>C
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2765-17G>C
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3910
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 4441
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff

5-127685186-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685186
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685186
    reference: chr 5
allele count: 1
allele frequency: 8.959931187728478e-6
allele num: 111608
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2864-22T>C
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2765-22T>C
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2864-22T>C
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  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: 8.25e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

5-127685187-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685187
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685187
    reference: chr 5
allele count: 1
allele frequency: 8.968609865470853e-6
allele num: 111500
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2864-23C>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2864-23C>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2765-23C>G
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
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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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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8564
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2762
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

5-127685191-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685191
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685191
    reference: chr 5
allele count: 2
allele frequency: 1.79917597740235e-5
allele num: 111162
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2765-27T>C
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2864-27T>C
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2864-27T>C
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17627
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6653
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4706
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8561
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2471
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4313
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3502
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6188
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 734
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16820
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-127685194-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685194
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685194
    reference: chr 5
allele count: 2
allele frequency: 1.810872478360074e-5
allele num: 110444
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2864-30T>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2864-30T>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2765-30T>G
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4917
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9929
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 13481
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4237
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6986
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2277
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4640
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14299
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

5-127685198-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685198
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685198
    reference: chr 5
allele count: 1
allele frequency: 9.131419387829645e-6
allele num: 109512
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2864-34T>C
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2765-34T>C
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2864-34T>C
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7165
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19132
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11566
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 529
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
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genotype quality: GenotypeQuality
  all individuals: 8561
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5585
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13328
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 499
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genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

5-127685200-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685200
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685201
    reference: chr 5
allele count: 1
allele frequency: 9.200139842125601e-6
allele num: 108694
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2864-37dupA
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2765-37dupA
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2864-37dupA
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6220
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5493
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  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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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12800
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8561
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum

5-127685206-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685206
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685206
    reference: chr 5
allele count: 1
allele frequency: 9.349988780013463e-6
allele num: 106952
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2765-42T>C
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2864-42T>C
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2864-42T>C
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14664
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6767
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5049
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2519
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8531
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6236
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12436
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8562
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2936
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

5-127685210-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127685210
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127685211
    reference: chr 5
allele count: 1
allele frequency: 9.560960685329663e-6
allele num: 104592
alternate allele: GA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.2864-47dupT
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.2864-47dupT
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.2765-47dupT
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17843
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14532
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6111
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2139
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5022
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2784
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8528
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3974
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3842
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6946
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8561
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
reference allele: G

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 14
allele frequency: 1.619995371441796e-3
allele num: 8642
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
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: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66630
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.91e0

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

FS
type: SiteQuality
SIO_000300: 5.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.36e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.14e-1

QD
type: SiteQuality
SIO_000300: 1.258e1

DP
type: SiteQuality
SIO_000300: 2.155257e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-1

GenotypeQuality
all individuals: 3382
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66630
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157139551029854e-4
allele num: 8642
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 4.518e0

VQSLOD
type: SiteQuality
SIO_000300: 2.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.74e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.2e-2

MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
SIO_000300: 2.154247e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.227e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.56e-1

GenotypeQuality
all individuals: 2516
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66628
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.597e0

VQSLOD
type: SiteQuality
SIO_000300: 9.29e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.005e0

DP
type: SiteQuality
SIO_000300: 2.153922e6

MQRankSum
type: SiteQuality
SIO_000300: 9.77e-1

QD
type: SiteQuality
SIO_000300: 1.212e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 1956
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500960614793468e-5
allele num: 66624
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.153728e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

QD
type: SiteQuality
SIO_000300: 1.498e1

MQRankSum
type: SiteQuality
SIO_000300: -2.63e-1

FS
type: SiteQuality
SIO_000300: 4.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.02e-1

MQ
type: SiteQuality
SIO_000300: 5.988e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.2e0

GenotypeQuality
all individuals: 2478
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1895
bin: 9.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 26
allele frequency: 3.931055337163592e-3
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 260
allele frequency: 2.247579529737206e-2
allele num: 11568
num of homozygotes: 4

African
type: Population
allele count: 70
allele frequency: 6.745037579495085e-3
allele num: 10378
num of homozygotes: 0

South Asian
type: Population
allele count: 40
allele frequency: 2.42394861228942e-3
allele num: 16502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1368
allele frequency: 2.054485927972847e-2
allele num: 66586
num of homozygotes: 16

Other
type: Population
allele count: 15
allele frequency: 1.662971175166297e-2
allele num: 902
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.271e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.393e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.13e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 1.287e0

DP
type: SiteQuality
SIO_000300: 2.253777e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.87e-1

GenotypeQuality
all individuals: 1230
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502133028901039e-5
allele num: 66572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.58e-1

FS
type: SiteQuality
SIO_000300: 6.092e0

MQRankSum
type: SiteQuality
SIO_000300: -5.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.81e-1

QD
type: SiteQuality
SIO_000300: 1.524e1

VQSLOD
type: SiteQuality
SIO_000300: 5.03e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

DP
type: SiteQuality
SIO_000300: 2.120281e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.42e0

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 30
allele frequency: 4.506940688660537e-4
allele num: 66564
num of homozygotes: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.928268414963363e-4
allele num: 10372
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.42e0

DP
type: SiteQuality
SIO_000300: 2.122236e6

MQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.24e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.94e-1

FS
type: SiteQuality
SIO_000300: 1.293e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.356e1

GenotypeQuality
all individuals: 27419
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004807692307692e-5
allele num: 66560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.3e-2

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.119558e6

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 9.93e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66560
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 904
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

FS
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ClippingRankSum
type: SiteQuality
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MQRankSum
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QD
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.009e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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

East Asian
type: Population
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allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

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 frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.502403846153846e-5
allele num: 66560
num of homozygotes: 0

InbreedingCoeff
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.626e0

ReadPosRankSum
type: SiteQuality
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VQSLOD
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

MQ
type: SiteQuality
SIO_000300: 6.009e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66522
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10356
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East Asian
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allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.118054e6

InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.394e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

QD
type: SiteQuality
SIO_000300: 1.267e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8630
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503352476021528e-5
allele num: 66518
num of homozygotes: 0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

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

FS
type: SiteQuality
SIO_000300: 3.177e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.349e0

DP
type: SiteQuality
SIO_000300: 2.117886e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
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allele count: 1
allele frequency: 1.503352476021528e-5
allele num: 66518
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
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: 10348
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 904
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.18e-1

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

VQSLOD
type: SiteQuality
SIO_000300: 2.61e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.177e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.26e-1

DP
type: SiteQuality
SIO_000300: 2.117886e6

QD
type: SiteQuality
SIO_000300: 1.068e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2525
bin: 7.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505751972535084e-5
allele num: 66412
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 902
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11546
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8624
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South Asian
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allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 5.98e1

InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.8986e1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.112973e6

MQRankSum
type: SiteQuality
SIO_000300: 5.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.14e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66404
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

FS
type: SiteQuality
SIO_000300: 4.151e0

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.094e1

DP
type: SiteQuality
SIO_000300: 2.111068e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.77e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 900
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6574
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European (Non-Finnish)
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allele frequency: 6.036642419486282e-5
allele num: 66262
num of homozygotes: 0

African
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Latino
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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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South Asian
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allele count: 2
allele frequency: 1.221597849987784e-4
allele num: 16372
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66192
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.127450980392157e-5
allele num: 16320
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6552
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Latino
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allele count: 1
allele frequency: 8.726003490401397e-5
allele num: 11460
num of homozygotes: 0

East Asian
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allele frequency: 1.161170459823502e-4
allele num: 8612
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African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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QD
type: SiteQuality
SIO_000300: 1.365e1

DP
type: SiteQuality
SIO_000300: 2.07877e6

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10104
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Latino
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allele frequency: 8.739730816290858e-5
allele num: 11442
num of homozygotes: 0

South Asian
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num of homozygotes: 0

Other
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East Asian
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allele count: 0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.536244594308525e-5
allele num: 66134
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
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
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QD
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
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num of homozygotes: 0

Other
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East Asian
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European (Finnish)
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allele count: 0
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African
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allele frequency: 9.906875371507826e-5
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European (Non-Finnish)
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allele num: 66100
num of homozygotes: 0

South Asian
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InbreedingCoeff
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FS
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

African
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South Asian
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allele frequency: 6.156877231867996e-5
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66048
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Other
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East Asian
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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ClippingRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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DP
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 20

European (Finnish)
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num of homozygotes: 0

South Asian
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East Asian
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African
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allele frequency: 2.107587314331594e-3
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Latino
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European (Non-Finnish)
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allele count: 0
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Other
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 888
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 9946
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 6.069618524475737e-5
allele num: 65902
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

FS
type: SiteQuality
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ReadPosRankSum
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MQ
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16146
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 886
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9924
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.670970682059851e-4
allele num: 65830
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6532
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East Asian
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allele frequency: 0.0e0
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
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VQSLOD
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MQRankSum
type: SiteQuality
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MQ
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QD
type: SiteQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8536
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.224324660774306e-5
allele num: 16066
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11320
num of homozygotes: 0

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

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

MQ
type: SiteQuality
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BaseQRankSum
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FS
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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ClippingRankSum
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MQRankSum
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QD
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65494
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 6.255473539346929e-5
allele num: 15986
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

MQ
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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InbreedingCoeff
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-2

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

African
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allele count: 1
allele frequency: 1.0275380189067e-4
allele num: 9732
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South Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11290
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 65430
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6504
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VQSLOD
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FS
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11280
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9728
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.059601028025946e-5
allele num: 65368
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East Asian
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allele frequency: 0.0e0
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VQSLOD
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QD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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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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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502629601803156e-5
allele num: 66550
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African
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allele count: 115
allele frequency: 1.113262342691191e-2
allele num: 10330
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Latino
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allele frequency: 3.466805338880222e-4
allele num: 11538
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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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allele frequency: 0.0e0
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East Asian
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allele count: 0
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Other
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
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South Asian
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allele frequency: 1.213592233009709e-4
allele num: 16480
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East Asian
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allele count: 50
allele frequency: 5.789717461787865e-3
allele num: 8636
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66596
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Other
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allele count: 0
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Latino
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allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.02e-1

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 25

Other
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allele frequency: 1.963048498845266e-2
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East Asian
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allele count: 18
allele frequency: 2.11118930330753e-3
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Latino
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allele frequency: 1.13418251614029e-3
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African
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allele frequency: 1.503531786074672e-2
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South Asian
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allele frequency: 1.216249087813184e-4
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European (Non-Finnish)
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allele count: 512
allele frequency: 7.862890840960746e-3
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European (Finnish)
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allele count: 166
allele frequency: 2.701822916666667e-2
allele num: 6144
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VQSLOD
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ReadPosRankSum
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FS
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QD
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MQ
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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MQRankSum
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DP
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele num: 66604
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African
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Latino
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East Asian
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European (Finnish)
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South Asian
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Other
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FS
type: SiteQuality
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DP
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QD
type: SiteQuality
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VQSLOD
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MQ
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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South Asian
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Latino
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African
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allele frequency: 7.798791187365958e-4
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East Asian
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European (Finnish)
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allele count: 3
allele frequency: 4.60546515198035e-4
allele num: 6514
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Other
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allele num: 904
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European (Non-Finnish)
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allele count: 29
allele frequency: 4.370102471368294e-4
allele num: 66360
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QD
type: SiteQuality
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ClippingRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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FS
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

Latino
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African
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South Asian
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East Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 4.503693028283192e-5
allele num: 66612
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DP
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InbreedingCoeff
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FS
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MQ
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VQSLOD
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ReadPosRankSum
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QD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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variant carriers: 0

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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European (Non-Finnish)
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allele num: 66628
num of homozygotes: 0

Other
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ClippingRankSum
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MQ
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VQSLOD
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MQRankSum
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FS
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InbreedingCoeff
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DP
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QD
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Other
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European (Finnish)
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African
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East Asian
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South Asian
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Latino
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European (Non-Finnish)
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QD
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FS
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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DP
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MQ
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6610
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 7.504577792453396e-5
allele num: 66626
num of homozygotes: 0

East Asian
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allele frequency: 1.157407407407407e-4
allele num: 8640
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Latino
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allele num: 11546
num of homozygotes: 0

VQSLOD
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DP
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QD
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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FS
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InbreedingCoeff
type: SiteQuality
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MQ
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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African
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allele frequency: 7.720517274657402e-4
allele num: 10362
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FS
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VQSLOD
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ClippingRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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DP
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QD
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

South Asian
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Other
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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VQSLOD
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FS
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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MQ
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QD
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 9.646922631680494e-5
allele num: 10366
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European (Finnish)
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allele count: 0
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Other
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South Asian
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allele frequency: 6.066488716330988e-5
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Latino
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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ReadPosRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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FS
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BaseQRankSum
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DP
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VQSLOD
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ClippingRankSum
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
SIO_000300: -1.6e-1

GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11550
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African
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allele count: 1
allele frequency: 9.648784253184099e-5
allele num: 10364
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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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allele count: 0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.500195025353296e-5
allele num: 66658
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East Asian
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Other
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DP
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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MQRankSum
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QD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
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East Asian
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European (Finnish)
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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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DP
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 2.998590662388677e-5
allele num: 66698
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African
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Other
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num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
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South Asian
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allele frequency: 1.21256214380987e-4
allele num: 16494
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East Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
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DP
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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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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.097e1

GenotypeQuality
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variant carriers: 0

Other
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num of homozygotes: 0

South Asian
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African
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European (Non-Finnish)
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Latino
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East Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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Latino
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allele num: 11566
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South Asian
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DP
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ClippingRankSum
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MQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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South Asian
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African
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European (Finnish)
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East Asian
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Latino
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Other
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European (Non-Finnish)
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allele frequency: 1.49902563333833e-5
allele num: 66710
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ClippingRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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DP
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MQRankSum
type: SiteQuality
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FS
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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num of homozygotes: 0

Latino
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European (Non-Finnish)
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South Asian
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Other
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MQ
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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FS
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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QD
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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num of homozygotes: 0

European (Non-Finnish)
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Other
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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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allele frequency: 1.819284414796847e-4
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FS
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InbreedingCoeff
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QD
type: SiteQuality
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DP
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MQRankSum
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BaseQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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South Asian
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allele num: 16490
num of homozygotes: 0

European (Finnish)
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East Asian
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Other
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African
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Latino
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European (Non-Finnish)
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ReadPosRankSum
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ClippingRankSum
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DP
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FS
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MQRankSum
type: SiteQuality
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MQ
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BaseQRankSum
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VQSLOD
type: SiteQuality
SIO_000300: 1.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

QD
type: SiteQuality
SIO_000300: 1.334e1

GenotypeQuality
all individuals: 19481
bin: 9.75e1
variant carriers: 1

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: 8634
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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: 11564
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.876e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.44e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.076e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

DP
type: SiteQuality
SIO_000300: 2.553906e6

QD
type: SiteQuality
SIO_000300: 1.334e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.39e0

GenotypeQuality
all individuals: 2484
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.497211728728189e-5
allele num: 66708
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
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: 10402
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.536e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.671e0

MQ
type: SiteQuality
SIO_000300: 5.917e1

FS
type: SiteQuality
SIO_000300: 1.709e0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

MQRankSum
type: SiteQuality
SIO_000300: -4.64e-1

DP
type: SiteQuality
SIO_000300: 2.549319e6

GenotypeQuality
all individuals: 19472
bin: 9.75e1
variant carriers: 5

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.496701451361401e-5
allele num: 66696
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.92e-1

FS
type: SiteQuality
SIO_000300: 1.559e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.91e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
SIO_000300: 2.548944e6

MQRankSum
type: SiteQuality
SIO_000300: 3.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.63e-1

QD
type: SiteQuality
SIO_000300: 1.399e1

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2475
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 15
allele frequency: 9.103046486224056e-4
allele num: 16478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 40
allele frequency: 5.997361161089121e-4
allele num: 66696
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 4.405286343612335e-3
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 13
allele frequency: 1.124372945857118e-3
allele num: 11562
num of homozygotes: 1

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

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

African
type: Population
allele count: 48
allele frequency: 4.614497212074601e-3
allele num: 10402
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.294e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.02e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.552246e6

GenotypeQuality
all individuals: 19467
bin: 9.75e1
variant carriers: 1

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.34e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.24e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

MQRankSum
type: SiteQuality
SIO_000300: -5.82e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

FS
type: SiteQuality
SIO_000300: 2.601e0

DP
type: SiteQuality
SIO_000300: 2.547688e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.57e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.007e0

QD
type: SiteQuality
SIO_000300: 1.389e1

GenotypeQuality
all individuals: 465
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.072382803011902e-5
allele num: 16468
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: 10398
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

QD
type: SiteQuality
SIO_000300: 8.83e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e-2

DP
type: SiteQuality
SIO_000300: 2.537727e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.64e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 19479
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.653513326410523e-5
allele num: 11556
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 2.534677e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.448e0

FS
type: SiteQuality
SIO_000300: 7.09e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.12e-1

QD
type: SiteQuality
SIO_000300: 1.452e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.17e-1

GenotypeQuality
all individuals: 19475
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
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: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
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: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.534887e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.19e-1

QD
type: SiteQuality
SIO_000300: 1.213e1

FS
type: SiteQuality
SIO_000300: 1.158e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.1e0

GenotypeQuality
all individuals: 4823
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
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: 1.213e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 1.158e0

MQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.19e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 2.534887e6

VQSLOD
type: SiteQuality
SIO_000300: 4.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.19e-1

GenotypeQuality
all individuals: 554
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.44e-1

QD
type: SiteQuality
SIO_000300: 1.448e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.528e0

DP
type: SiteQuality
SIO_000300: 2.53426e6

MQRankSum
type: SiteQuality
SIO_000300: -4.26e-1

FS
type: SiteQuality
SIO_000300: 4.129e0

GenotypeQuality
all individuals: 397
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.998440405494571e-5
allele num: 66684
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
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: 10394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

MQRankSum
type: SiteQuality
SIO_000300: -5.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-1

QD
type: SiteQuality
SIO_000300: 1.286e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.917e1

DP
type: SiteQuality
SIO_000300: 2.532388e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.03e-1

GenotypeQuality
all individuals: 489
bin: 5.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.620935154897056e-5
allele num: 10394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.49802087081684e-5
allele num: 66696
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.532183e6

VQSLOD
type: SiteQuality
SIO_000300: 2.07e-1

QD
type: SiteQuality
SIO_000300: 1.461e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.16e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.400000000000001e-2

FS
type: SiteQuality
SIO_000300: 1.0513e1

GenotypeQuality
all individuals: 3699
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.999520038396928e-5
allele num: 66672
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16454
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e-1

FS
type: SiteQuality
SIO_000300: 1.734e0

VQSLOD
type: SiteQuality
SIO_000300: -2.31e0

QD
type: SiteQuality
SIO_000300: 3.404e1

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.463e0

DP
type: SiteQuality
SIO_000300: 2.532319e6

MQ
type: SiteQuality
SIO_000300: 5.953e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-1

GenotypeQuality
all individuals: 1592
bin: 8.25e1
variant carriers: 1497

GenotypeQuality
all individuals: 139
bin: 2.25e1
variant carriers: 56

European (Finnish)
type: Population
allele count: 4715
allele frequency: 7.146104880266747e-1
allele num: 6598
num of homozygotes: 1707

Other
type: Population
allele count: 652
allele frequency: 7.196467991169978e-1
allele num: 906
num of homozygotes: 236

East Asian
type: Population
allele count: 8083
allele frequency: 9.366164542294322e-1
allele num: 8630
num of homozygotes: 3787

African
type: Population
allele count: 6455
allele frequency: 6.221087124132614e-1
allele num: 10376
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Latino
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allele frequency: 8.276939094221759e-1
allele num: 11526
num of homozygotes: 3960

South Asian
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allele count: 12120
allele frequency: 7.365990032818768e-1
allele num: 16454
num of homozygotes: 4515

European (Non-Finnish)
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allele count: 45931
allele frequency: 6.910866359724354e-1
allele num: 66462
num of homozygotes: 15903

MQ
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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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InbreedingCoeff
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FS
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ClippingRankSum
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VQSLOD
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.515472979116782e-5
allele num: 65986
num of homozygotes: 0

East Asian
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Other
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MQ
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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QD
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InbreedingCoeff
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FS
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DP
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 0.0e0
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Latino
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European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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East Asian
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allele frequency: 5.932605600379687e-4
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European (Non-Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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DP
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MQRankSum
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QD
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ReadPosRankSum
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MQ
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FS
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.413545407901488e-5
allele num: 15592
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African
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Other
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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East Asian
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ReadPosRankSum
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MQ
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DP
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FS
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InbreedingCoeff
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QD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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South Asian
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allele frequency: 1.295001295001295e-4
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Other
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FS
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MQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
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DP
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8222
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63840
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South Asian
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allele count: 1
allele frequency: 6.47920176234288e-5
allele num: 15434
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African
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allele frequency: 0.0e0
allele num: 9954
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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Other
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ReadPosRankSum
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FS
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QD
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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MQRankSum
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MQ
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 62610
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East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9772
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.574621959237344e-5
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Other
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allele frequency: 0.0e0
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ReadPosRankSum
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QD
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ClippingRankSum
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BaseQRankSum
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FS
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VQSLOD
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MQRankSum
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DP
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MQ
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InbreedingCoeff
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

East Asian
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Other
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.618384851917786e-5
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African
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VQSLOD
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MQRankSum
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MQ
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FS
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InbreedingCoeff
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DP
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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QD
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GenotypeQuality
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East Asian
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num of homozygotes: 0

Latino
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African
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.668444918644971e-5
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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QD
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FS
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MQ
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MQRankSum
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DP
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ClippingRankSum
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GenotypeQuality
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South Asian
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allele frequency: 1.338867318248761e-4
allele num: 14938
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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African
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Other
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Latino
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num of homozygotes: 0

MQRankSum
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DP
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VQSLOD
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BaseQRankSum
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QD
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ReadPosRankSum
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MQ
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FS
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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variant carriers: 2

European (Non-Finnish)
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allele frequency: 3.267760277106072e-5
allele num: 61204
num of homozygotes: 0

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

Other
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South Asian
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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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allele frequency: 1.647066574430938e-5
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num of homozygotes: 0

Latino
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MQRankSum
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DP
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ClippingRankSum
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VQSLOD
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MQ
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QD
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InbreedingCoeff
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BaseQRankSum
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FS
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

Other
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South Asian
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European (Non-Finnish)
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Latino
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East Asian
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African
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European (Finnish)
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QD
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ReadPosRankSum
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BaseQRankSum
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FS
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InbreedingCoeff
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DP
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ClippingRankSum
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MQ
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VQSLOD
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MQRankSum
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GenotypeQuality
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Latino
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African
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East Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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allele frequency: 1.685715248980142e-5
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South Asian
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VQSLOD
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BaseQRankSum
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MQ
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DP
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -7.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.83e0

GenotypeQuality
all individuals: 212
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.097213078779899e-4
allele num: 9114
num of homozygotes: 0