5-127866305-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127866305
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127866305
    reference: chr 5
allele count: 1
allele frequency: 8.275542461808372e-6
allele num: 120838
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.419C>T
  hgvsp: ENSP00000424753.1:p.Thr140Ile
  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.419C>T
  hgvsp: ENSP00000262464.4:p.Thr140Ile
  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.419C>T
  hgvsp: ENSP00000424571.1:p.Thr140Ile
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.1039C>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.338-2645C>T
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  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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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
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genotype depth: GenotypeDepth
  all individuals: 16743
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 972
  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 497
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
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genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41258
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr140Ile
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

5-127866311-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127866311
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127866311
    reference: chr 5
allele count: 2
allele frequency: 1.654177625593436e-5
allele num: 120906
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.413C>T
  hgvsp: ENSP00000424571.1:p.Ser138Leu
  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.413C>T
  hgvsp: ENSP00000262464.4:p.Ser138Leu
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.1033C>T
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.413C>T
  hgvsp: ENSP00000424753.1:p.Ser138Leu
  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.338-2651C>T
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4697
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16786
  bin: 2.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
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genotype depth: GenotypeDepth
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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: 542
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genotype depth: GenotypeDepth
  all individuals: 246
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genotype depth: GenotypeDepth
  all individuals: 680
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1300
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 498
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 41376
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genotype quality: GenotypeQuality
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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: 2
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genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser138Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

5-127866317-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127866317
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127866317
    reference: chr 5
allele count: 1
allele frequency: 8.267195767195768e-6
allele num: 120960
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.338-2657A>G
  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.407A>G
  hgvsp: ENSP00000262464.4:p.Gln136Arg
  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.407A>G
  hgvsp: ENSP00000424571.1:p.Gln136Arg
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.1027A>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.407A>G
  hgvsp: ENSP00000424753.1:p.Gln136Arg
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 41429
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  variant carriers: 0
hgvs: p.Gln136Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

5-127866320-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127866320
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127866320
    reference: chr 5
allele count: 2
allele frequency: 1.653302471687195e-5
allele num: 120970
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.1024G>A
  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.404G>A
  hgvsp: ENSP00000424571.1:p.Gly135Glu
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.404G>A
  hgvsp: ENSP00000424753.1:p.Gly135Glu
  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.338-2660G>A
  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.404G>A
  hgvsp: ENSP00000262464.4:p.Gly135Glu
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 388
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly135Glu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

5-127866322-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127866322
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127866322
    reference: chr 5
allele count: 4
allele frequency: 3.30611300294244e-5
allele num: 120988
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.338-2662T>C
  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.402T>C
  hgvsp: ENST00000262464.4:c.402T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.402T>C
  hgvsp: ENST00000502468.1:c.402T>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.402T>C
  hgvsp: ENST00000508053.1:c.402T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.1022T>C
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28290
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5847
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1311
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8736
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41442
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser134Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

5-127866326-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127866326
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127866326
    reference: chr 5
allele count: 1
allele frequency: 8.264326209484141e-6
allele num: 121002
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.398C>A
  hgvsp: ENSP00000424753.1:p.Ser133Tyr
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.1018C>A
  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.398C>A
  hgvsp: ENSP00000262464.4:p.Ser133Tyr
  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.398C>A
  hgvsp: ENSP00000424571.1:p.Ser133Tyr
  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.338-2666C>A
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41478
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5850
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser133Tyr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

5-127866342-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127866342
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127866342
    reference: chr 5
allele count: 1
allele frequency: 8.266649031148734e-6
allele num: 120968
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.338-2682A>G
  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.382A>G
  hgvsp: ENSP00000262464.4:p.Asn128Asp
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.382A>G
  hgvsp: ENSP00000424753.1:p.Asn128Asp
  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.382A>G
  hgvsp: ENSP00000424571.1:p.Asn128Asp
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.1002A>G
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16928
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5850
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn128Asp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

5-127866347-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127866347
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127866347
    reference: chr 5
allele count: 14
allele frequency: 1.157656242247838e-4
allele num: 120934
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.338-2687G>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.997G>A
  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.377G>A
  hgvsp: ENSP00000424571.1:p.Arg126His
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.377G>A
  hgvsp: ENSP00000424753.1:p.Arg126His
  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.377G>A
  hgvsp: ENSP00000262464.4:p.Arg126His
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8742
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg126His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

5-127866362-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127866362
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127866362
    reference: chr 5
allele count: 3
allele frequency: 2.483484825907714e-5
allele num: 120798
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.362A>G
  hgvsp: ENSP00000424571.1:p.Asp121Gly
  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.362A>G
  hgvsp: ENSP00000262464.4:p.Asp121Gly
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.982A>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.362A>G
  hgvsp: ENSP00000424753.1:p.Asp121Gly
  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.338-2702A>G
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8731
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5833
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41135
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp121Gly
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD

5-127866385-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127866385
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127866385
    reference: chr 5
allele count: 12
allele frequency: 1.00198727476161e-4
allele num: 119762
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.959G>A
  variant of: http://identifiers.org/hgnc/3604
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.339G>A
  hgvsp: ENST00000508053.1:c.339G>A(p.%3D)
  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.338-2725G>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.339G>A
  hgvsp: ENST00000502468.1:c.339G>A(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.339G>A
  hgvsp: ENST00000262464.4:c.339G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4729
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26477
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8738
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 106
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39627
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 3.25e1
  variant carriers: 0
hgvs: c.339G>A
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/5-127866393-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127866393
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127866393
    reference: chr 5
allele count: 1
allele frequency: 8.430139434506248e-6
allele num: 118622
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.338-7T>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.338-2733T>G
  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.338-7T>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.958-7T>G
  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.338-7T>G
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24765
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2904
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37626
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
hgvs: c.338-7T>G
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

5-127866404-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127866404
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127866404
    reference: chr 5
allele count: 1
allele frequency: 8.587524045067326e-6
allele num: 116448
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.338-2744C>T
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.958-18C>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.338-18C>T
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.338-18C>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.338-18C>T
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5823
  bin: 2.25e1
  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
  all individuals: 733
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32618
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5324
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

5-127866414-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127866414
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127866414
    reference: chr 5
allele count: 1
allele frequency: 8.744927941793759e-6
allele num: 114352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.958-28A>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.338-28A>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.338-28A>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.338-28A>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.338-2754A>G
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11766
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3827
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
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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: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
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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: 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
  all individuals: 912
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8913
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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: 2793
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 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: 1031
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2437
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

5-127866418-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127866418
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127866418
    reference: chr 5
allele count: 2
allele frequency: 1.762269803506917e-5
allele num: 113490
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.958-32A>T
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.338-32A>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.338-32A>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.338-2758A>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.338-32A>T
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11543
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1289
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12933
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 486
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  variant carriers: 0
num of homozygotes: 1
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

5-127866420-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127866420
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127866420
    reference: chr 5
allele count: 1
allele frequency: 8.847678369195924e-6
allele num: 113024
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.958-34T>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.338-34T>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.338-34T>C
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.338-34T>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.338-2760T>C
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 542
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

5-127866424-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127866424
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127866424
    reference: chr 5
allele count: 1
allele frequency: 8.902024320330443e-6
allele num: 112334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.338-38A>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.338-38A>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.958-38A>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.338-38A>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.338-2764A>G
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 13096
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
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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
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 921
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8724
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15095
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/5-127866425-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127866425
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127866425
    reference: chr 5
allele count: 2
allele frequency: 1.800828381055285e-5
allele num: 111060
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.338-2765T>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.958-39T>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.338-39T>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.338-39T>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.338-39T>G
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14059
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12650
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4288
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7736
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2638
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 485
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8664
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2974
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 10997
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 3548
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5985
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ

5-127866426-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127866426
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127866426
    reference: chr 5
allele count: 16
allele frequency: 1.442819268851335e-4
allele num: 110894
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.338-40A>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.338-40A>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.338-2766A>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.958-40A>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.338-40A>G
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8550
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7717
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14042
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 764
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2582
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3542
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 11286
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 826
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 5975
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 328
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genotype quality: GenotypeQuality
  all individuals: 8736
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 2981
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1146
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

5-127866436-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127866436
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127866436
    reference: chr 5
allele count: 4
allele frequency: 3.724464142721466e-5
allele num: 107398
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.338-50A>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.338-50A>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.338-50A>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.338-2776A>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.958-50A>G
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13669
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5399
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 943
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11862
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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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
  all individuals: 685
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genotype quality: GenotypeQuality
  all individuals: 8723
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/5-127872052-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872052
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872052
    reference: chr 5
allele count: 1
allele frequency: 9.491087868491486e-6
allele num: 105362
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.957+43G>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.337+43G>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.337+43G>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.337+43G>T
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.337+43G>T
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7073
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6400
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6342
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3760
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13565
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

5-127872052-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872052
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872052
    reference: chr 5
allele count: 6
allele frequency: 5.694652721094892e-5
allele num: 105362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.957+43G>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.337+43G>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.337+43G>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.337+43G>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.337+43G>A
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15586
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7073
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11349
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12470
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4584
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7408
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2008
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13565
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6400
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4557
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6342
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3760
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

5-127872053-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872053
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872053
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 105416
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.337+42G>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.337+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.337+42G>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.957+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.337+42G>A
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 10602
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7253
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6290
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14533
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4254
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2923
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7475
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3716
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

5-127872054-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872054
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872054
    reference: chr 5
allele count: 2
allele frequency: 1.89602214553866e-5
allele num: 105484
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.337+41C>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.337+41C>T
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.337+41C>T
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.957+41C>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.337+41C>T
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15266
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7049
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9545
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4595
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3687
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2762
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

5-127872056-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872056
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872056
    reference: chr 5
allele count: 377
allele frequency: 3.557946394865987e-3
allele num: 105960
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.337+39C>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.337+39C>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.337+39C>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.337+39C>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.957+39C>G
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 15988
  bin: 2.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 14933
  bin: 1.25e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 3.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 2.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 8316
  bin: 1.75e1
  variant carriers: 91
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 20
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4604
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 7665
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2068
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3621
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7534
  bin: 9.75e1
  variant carriers: 352
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6088
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 444
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 9
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

5-127872057-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872057
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872057
    reference: chr 5
allele count: 12
allele frequency: 1.133337111123704e-4
allele num: 105882
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.957+38A>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.337+38A>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.337+38A>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.337+38A>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.337+38A>G
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6941
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14791
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16440
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5034
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7959
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17685
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7606
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2978
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5832
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2471
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3582
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

5-127872059-C-CGCTGCCCCAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872059
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872069
    reference: chr 5
allele count: 6
allele frequency: 5.672149744753262e-5
allele num: 105780
alternate allele: CGCTGCCCCAA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  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
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  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
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17817
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6926
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14213
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5320
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6871
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2447
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2125
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19235
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7640
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2222
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3563
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5892
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5493
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-127872060-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872060
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872060
    reference: chr 5
allele count: 1
allele frequency: 9.425248355294162e-6
allele num: 106098
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.337+35C>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.337+35C>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.337+35C>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.957+35C>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.337+35C>G
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6536
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13794
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5557
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7222
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2295
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7551
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19013
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5287
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3515
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

5-127872062-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872062
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872062
    reference: chr 5
allele count: 1
allele frequency: 9.355237061707144e-6
allele num: 106892
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.337+33A>C
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.957+33A>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.337+33A>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.337+33A>C
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.337+33A>C
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6781
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12839
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7224
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 352
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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: 1705
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5409
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4676
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  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: T
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

5-127872066-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872066
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872066
    reference: chr 5
allele count: 1
allele frequency: 9.313935510310527e-6
allele num: 107366
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.337+29G>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.337+29G>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.337+29G>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.957+29G>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.337+29G>A
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6537
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10887
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6404
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2965
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3625
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4644
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7416
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7227
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2428
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26447
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

5-127872068-A-AAGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872068
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872071
    reference: chr 5
allele count: 1
allele frequency: 9.26234670816198e-6
allele num: 107964
alternate allele: AAGC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.337+24_337+26dupGCT
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.337+24_337+26dupGCT
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.957+24_957+26dupGCT
  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.337+24_337+26dupGCT
  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.337+24_337+26dupGCT
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9963
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2816
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7237
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27982
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7226
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

5-127872069-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872069
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872069
    reference: chr 5
allele count: 3
allele frequency: 2.776081283659986e-5
allele num: 108066
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.337+26T>C
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.337+26T>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.337+26T>C
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.957+26T>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.337+26T>C
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9609
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25573
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4094
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2747
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7153
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7227
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/5-127872071-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872071
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872071
    reference: chr 5
allele count: 1
allele frequency: 9.234463015975621e-6
allele num: 108290
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.337+24G>T
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.957+24G>T
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.337+24G>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.337+24G>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.337+24G>T
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6985
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6182
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26176
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9004
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3834
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7226
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2775
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6976
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2552
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

5-127872072-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872072
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872072
    reference: chr 5
allele count: 1
allele frequency: 9.203696204395685e-6
allele num: 108652
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.957+23A>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.337+23A>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.337+23A>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.337+23A>T
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.337+23A>T
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8623
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6073
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26778
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2534
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3645
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6891
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 792
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2632
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2599
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

5-127872074-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872074
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872074
    reference: chr 5
allele count: 1
allele frequency: 9.185098096847674e-6
allele num: 108872
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.337+21G>C
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.957+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.337+21G>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.337+21G>C
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.337+21G>C
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27615
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7762
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2367
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30728
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7225
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3297
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6624
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff

5-127872080-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872080
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872080
    reference: chr 5
allele count: 1
allele frequency: 9.019572472264815e-6
allele num: 110870
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.337+15G>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.337+15G>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.337+15G>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.337+15G>C
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.957+15G>C
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30719
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4990
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1736
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2974
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34210
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7227
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genotype quality: GenotypeQuality
  all individuals: 2158
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5765
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

5-127872117-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872117
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872117
    reference: chr 5
allele count: 1
allele frequency: 8.637667138859137e-6
allele num: 115772
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.935T>A
  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.315T>A
  hgvsp: ENST00000262464.4:c.315T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.315T>A
  hgvsp: ENST00000502468.1:c.315T>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.315T>A
  hgvsp: ENST00000508053.1:c.315T>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.315T>A
  hgvsp: ENST00000508989.1:c.315T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11053
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34090
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3469
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40808
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7230
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3433
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro105Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/5-127872123-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872123
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872123
    reference: chr 5
allele count: 1
allele frequency: 8.63155350700019e-6
allele num: 115854
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.929G>T
  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.309G>T
  hgvsp: ENST00000508989.1:c.309G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.309G>T
  hgvsp: ENST00000502468.1:c.309G>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.309G>T
  hgvsp: ENST00000262464.4:c.309G>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.309G>T
  hgvsp: ENST00000508053.1:c.309G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3454
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40726
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr103Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

5-127872123-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872123
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872123
    reference: chr 5
allele count: 2
allele frequency: 1.726310701400038e-5
allele num: 115854
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.309G>A
  hgvsp: ENST00000508989.1:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.929G>A
  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.309G>A
  hgvsp: ENST00000508053.1:c.309G>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.309G>A
  hgvsp: ENST00000262464.4:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.309G>A
  hgvsp: ENST00000502468.1:c.309G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1847
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3406
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3454
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr103Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

5-127872135-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872135
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872135
    reference: chr 5
allele count: 118
allele frequency: 1.021468144044321e-3
allele num: 115520
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.297T>C
  hgvsp: ENST00000508053.1:c.297T>C(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.297T>C
  hgvsp: ENST00000508989.1:c.297T>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.297T>C
  hgvsp: ENST00000262464.4:c.297T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.917T>C
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.297T>C
  hgvsp: ENST00000502468.1:c.297T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1943
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 33247
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11657
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3466
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40729
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro99Pro
num of homozygotes: 2
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

5-127872138-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872138
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872138
    reference: chr 5
allele count: 1
allele frequency: 8.684928175643988e-6
allele num: 115142
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.294C>T
  hgvsp: ENST00000508053.1:c.294C>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.294C>T
  hgvsp: ENST00000262464.4:c.294C>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.294C>T
  hgvsp: ENST00000508989.1:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.294C>T
  hgvsp: ENST00000502468.1:c.294C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.914C>T
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11658
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32783
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3419
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4263
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Cys98Cys
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

5-127872142-CAGT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872142
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872139
    reference: chr 5
allele count: 22
allele frequency: 1.917712691771269e-4
allele num: 114720
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.287_289delACT
  hgvsp: ENSP00000262464.4:p.Tyr96del
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.287_289delACT
  hgvsp: ENSP00000424571.1:p.Tyr96del
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.907_909delACT
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.287_289delACT
  hgvsp: ENSP00000424753.1:p.Tyr96del
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.287_289delACT
  hgvsp: ENSP00000425596.1:p.Tyr96del
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32107
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11697
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39556
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr96del
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: CAGT
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

5-127872146-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872146
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872147
    reference: chr 5
allele count: 1
allele frequency: 8.750590664869879e-6
allele num: 114278
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.285dupC
  hgvsp: ENSP00000425596.1:p.Tyr96LeufsTer34
  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.285dupC
  hgvsp: ENSP00000262464.4:p.Tyr96LeufsTer21
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.285dupC
  hgvsp: ENSP00000424753.1:p.Tyr96LeufsTer21
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.285dupC
  hgvsp: ENSP00000424571.1:p.Tyr96LeufsTer21
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.905dupC
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31588
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39087
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5093
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3339
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Tyr96LeufsTer21
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

5-127872150-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872150
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872150
    reference: chr 5
allele count: 1
allele frequency: 8.81010695469843e-6
allele num: 113506
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.282C>G
  hgvsp: ENSP00000424571.1:p.His94Gln
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.282C>G
  hgvsp: ENSP00000424753.1:p.His94Gln
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.902C>G
  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.282C>G
  hgvsp: ENSP00000262464.4:p.His94Gln
  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.282C>G
  hgvsp: ENSP00000425596.1:p.His94Gln
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7224
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5856
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 929
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His94Gln
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD

5-127872153-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872153
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872153
    reference: chr 5
allele count: 1
allele frequency: 8.836888708223609e-6
allele num: 113162
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.279C>G
  hgvsp: ENSP00000424571.1:p.Phe93Leu
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.899C>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.279C>G
  hgvsp: ENSP00000424753.1:p.Phe93Leu
  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.279C>G
  hgvsp: ENSP00000425596.1:p.Phe93Leu
  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.279C>G
  hgvsp: ENSP00000262464.4:p.Phe93Leu
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11358
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3865
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37392
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7222
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Phe93Leu
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

5-127872157-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872157
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872157
    reference: chr 5
allele count: 1
allele frequency: 8.897113776290972e-6
allele num: 112396
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.275G>C
  hgvsp: ENSP00000424753.1:p.Arg92Thr
  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.275G>C
  hgvsp: ENSP00000425596.1:p.Arg92Thr
  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.275G>C
  hgvsp: ENSP00000262464.4:p.Arg92Thr
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.895G>C
  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.275G>C
  hgvsp: ENSP00000424571.1:p.Arg92Thr
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29215
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6879
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 615
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3151
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg92Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

5-127872171-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872171
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872171
    reference: chr 5
allele count: 2
allele frequency: 1.83766102504732e-5
allele num: 108834
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.881C>T
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.261C>T
  hgvsp: ENST00000502468.1:c.261C>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.261C>T
  hgvsp: ENST00000508053.1:c.261C>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.261C>T
  hgvsp: ENST00000508989.1:c.261C>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.261C>T
  hgvsp: ENST00000262464.4:c.261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5973
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7056
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7220
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31648
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10257
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn87Asn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

5-127872173-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872173
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872173
    reference: chr 5
allele count: 1
allele frequency: 9.208103130755064e-6
allele num: 108600
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.259A>C
  hgvsp: ENSP00000262464.4:p.Asn87His
  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.259A>C
  hgvsp: ENSP00000425596.1:p.Asn87His
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.259A>C
  hgvsp: ENSP00000424753.1:p.Asn87His
  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.259A>C
  hgvsp: ENSP00000424571.1:p.Asn87His
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.879A>C
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1954
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7218
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1669
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10624
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2831
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn87His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

5-127872174-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872174
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872174
    reference: chr 5
allele count: 1
allele frequency: 9.234804129804407e-6
allele num: 108286
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.258C>T
  hgvsp: ENST00000262464.4:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.878C>T
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.258C>T
  hgvsp: ENST00000502468.1:c.258C>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.258C>T
  hgvsp: ENST00000508053.1:c.258C>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.258C>T
  hgvsp: ENST00000508989.1:c.258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1978
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7555
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31603
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10900
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 620
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro86Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum

5-127872175-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872175
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872175
    reference: chr 5
allele count: 6
allele frequency: 5.585864040069265e-5
allele num: 107414
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.257C>G
  hgvsp: ENSP00000262464.4:p.Pro86Arg
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.877C>G
  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.257C>G
  hgvsp: ENSP00000424571.1:p.Pro86Arg
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.257C>G
  hgvsp: ENSP00000424753.1:p.Pro86Arg
  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.257C>G
  hgvsp: ENSP00000425596.1:p.Pro86Arg
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2162
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23321
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10259
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8414
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4594
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2725
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1911
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
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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: 94
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro86Arg
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

5-127872186-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872186
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872186
    reference: chr 5
allele count: 1
allele frequency: 9.843682324684018e-6
allele num: 101588
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.255-9C>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.255-9C>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.255-9C>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.875-9C>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.255-9C>A
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20334
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 318
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 238
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17789
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

5-127872195-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872195
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872195
    reference: chr 5
allele count: 159
allele frequency: 1.644260599793175e-3
allele num: 96700
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.875-18C>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000262464
  ensembl transcript: ENST00000262464
  gene symbol: FBN2
  hgvsc: ENST00000262464.4:c.255-18C>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.255-18C>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  hgvsc: ENST00000508053.1:c.255-18C>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.255-18C>A
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 1.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 9458
  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 13151
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 7.25e1
  variant carriers: 3
num of homozygotes: 3
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

5-127872196-G-GACATAGAAAGATAAAAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872196
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872213
    reference: chr 5
allele count: 1
allele frequency: 1.035303861683404e-5
allele num: 96590
alternate allele: GACATAGAAAGATAAAAC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424571
  ensembl transcript: ENST00000508053
  gene symbol: FBN2
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  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
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  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
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 20526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8979
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21865
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5175
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4777
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7215
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-127872200-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872200
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872200
    reference: chr 5
allele count: 1
allele frequency: 1.052565101151506e-5
allele num: 95006
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.875-23G>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.255-23G>T
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.255-23G>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.255-23G>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.255-23G>T
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21912
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4761
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11678
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2766
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 227
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 667
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genotype quality: GenotypeQuality
  all individuals: 480
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 5857
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 5166
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-127872200-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872200
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872200
    reference: chr 5
allele count: 1
allele frequency: 1.052565101151506e-5
allele num: 95006
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.255-23G>C
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.875-23G>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.255-23G>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.255-23G>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.255-23G>C
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7240
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21912
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5011
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11678
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10168
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ

5-127872200-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872200
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872199
    reference: chr 5
allele count: 1
allele frequency: 1.052565101151506e-5
allele num: 95006
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.255-24delC
  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.255-24delC
  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.255-24delC
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.875-24delC
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.255-24delC
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11678
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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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: 7240
  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 370
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: CG
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD

5-127872201-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872201
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872201
    reference: chr 5
allele count: 1
allele frequency: 1.063739256233512e-5
allele num: 94008
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.255-24C>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.255-24C>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.875-24C>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.255-24C>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.255-24C>G
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22387
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3009
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5320
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7214
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22522
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

5-127872205-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872205
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872205
    reference: chr 5
allele count: 1
allele frequency: 1.075685211479713e-5
allele num: 92964
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.255-28G>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.255-28G>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.255-28G>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.255-28G>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.875-28G>A
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22883
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7496
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 826
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 345
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7213
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 320
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22617
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

5-127872208-ATAGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872208
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872204
    reference: chr 5
allele count: 1
allele frequency: 1.088186645773483e-5
allele num: 91896
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.875-35_875-32delCCTA
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.255-35_255-32delCCTA
  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.255-35_255-32delCCTA
  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.255-35_255-32delCCTA
  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.255-35_255-32delCCTA
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12707
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
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genotype quality: GenotypeQuality
  all individuals: 7213
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 319
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1937
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genotype quality: GenotypeQuality
  all individuals: 916
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3589
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genotype quality: GenotypeQuality
  all individuals: 6867
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: ATAGG
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

5-127872209-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872209
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872209
    reference: chr 5
allele count: 1
allele frequency: 1.093924344192356e-5
allele num: 91414
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.255-32A>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.255-32A>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.255-32A>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.875-32A>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.255-32A>G
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7021
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
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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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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 337
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genotype quality: GenotypeQuality
  all individuals: 7213
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

5-127872210-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872210
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872210
    reference: chr 5
allele count: 1
allele frequency: 1.102608772355393e-5
allele num: 90694
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.255-33T>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.255-33T>C
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.875-33T>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.255-33T>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.255-33T>C
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22647
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7213
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3912
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21755
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7111
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2239
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD

5-127872215-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872215
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872215
    reference: chr 5
allele count: 1
allele frequency: 1.14322297420889e-5
allele num: 87472
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.875-38C>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.255-38C>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.255-38C>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.255-38C>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.255-38C>G
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21567
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8836
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 346
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7214
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1877
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7297
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  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: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 2221
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2802
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 4306
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

5-127872219-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872219
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872219
    reference: chr 5
allele count: 1
allele frequency: 1.165039494838875e-5
allele num: 85834
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.875-42C>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.255-42C>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.255-42C>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.255-42C>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.255-42C>G
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20979
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9088
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19365
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7214
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 402
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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: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

5-127872229-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872229
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872229
    reference: chr 5
allele count: 1
allele frequency: 1.25719745543235e-5
allele num: 79542
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.255-52G>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.255-52G>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.255-52G>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.875-52G>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.255-52G>A
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17002
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8660
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19433
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 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 quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 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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  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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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7496
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum

5-127872229-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872229
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872227
    reference: chr 5
allele count: 1
allele frequency: 1.25719745543235e-5
allele num: 79542
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.255-54_255-53delAT
  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.255-54_255-53delAT
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.255-54_255-53delAT
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.875-54_875-53delAT
  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.255-54_255-53delAT
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19433
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8660
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4433
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 384
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7285
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3074
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13652
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: CAT
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

5-127872996-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872996
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872996
    reference: chr 5
allele count: 1
allele frequency: 9.030323827412451e-6
allele num: 110738
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000425596
  ensembl transcript: ENST00000508989
  gene symbol: FBN2
  hgvsc: ENST00000508989.1:c.254+47G>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.874+47G>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.254+47G>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.254+47G>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.254+47G>A
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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genotype depth: GenotypeDepth
  all individuals: 918
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genotype depth: GenotypeDepth
  all individuals: 24
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genotype depth: GenotypeDepth
  all individuals: 190
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1964
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3579
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15788
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4649
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genotype depth: GenotypeDepth
  all individuals: 19478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
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genotype depth: GenotypeDepth
  all individuals: 6749
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 416
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 610
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28071
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1604
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3829
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1102
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genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1714
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

5-127872999-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127872999
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127872999
    reference: chr 5
allele count: 5
allele frequency: 4.517528008673654e-5
allele num: 110680
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.254+44G>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.254+44G>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.254+44G>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.874+44G>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.254+44G>A
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6781
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3969
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4574
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16794
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 3906
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

5-127873002-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127873002
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127873002
    reference: chr 5
allele count: 1
allele frequency: 9.031628763931287e-6
allele num: 110722
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.254+41G>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.254+41G>C
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.254+41G>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.254+41G>C
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.874+41G>C
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1964
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  variant carriers: 1
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

5-127873004-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127873004
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127873004
    reference: chr 5
allele count: 1
allele frequency: 9.024619161071403e-6
allele num: 110808
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.254+39T>C
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.874+39T>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.254+39T>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.254+39T>C
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.254+39T>C
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  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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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1381
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4129
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1290
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2324
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7155
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1973
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

5-127873007-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127873007
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127873007
    reference: chr 5
allele count: 3
allele frequency: 2.70929287455974e-5
allele num: 110730
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.874+36G>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.254+36G>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.254+36G>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.254+36G>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.254+36G>A
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4031
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18822
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6877
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32329
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2319
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

5-127873008-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127873008
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127873007
    reference: chr 5
allele count: 1
allele frequency: 9.027063135279568e-6
allele num: 110778
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.254+34delC
  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.254+34delC
  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.254+34delC
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.874+34delC
  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.254+34delC
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6891
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20204
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3920
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 591
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2296
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1100
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2321
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4175
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: CG
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

5-127873013-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127873013
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127873013
    reference: chr 5
allele count: 1
allele frequency: 9.022827754218172e-6
allele num: 110830
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.254+30G>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.254+30G>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.254+30G>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.874+30G>A
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.254+30G>A
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19176
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
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genotype quality: GenotypeQuality
  all individuals: 2331
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum

5-127873018-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127873018
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127873018
    reference: chr 5
allele count: 2
allele frequency: 1.803036313151347e-5
allele num: 110924
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.874+25C>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.254+25C>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.254+25C>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.254+25C>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.254+25C>G
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19461
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20602
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3830
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6956
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2285
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 894
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2338
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1089
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4679
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

5-127873023-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127873023
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127873023
    reference: chr 5
allele count: 2
allele frequency: 1.8033289452329e-5
allele num: 110906
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.254+20C>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.254+20C>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.254+20C>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.254+20C>G
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.874+20C>G
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19412
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33562
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2284
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1979
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2316
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

http://identifiers.org/exac.variant/5-127873028-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 127873028
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 127873028
    reference: chr 5
allele count: 1
allele frequency: 9.010957324106113e-6
allele num: 110976
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.254+15G>T
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl protein: ENSP00000424753
  ensembl transcript: ENST00000502468
  gene symbol: FBN2
  hgvsc: ENST00000502468.1:c.254+15G>T
  variant of: http://identifiers.org/hgnc/3604
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138829
  ensembl transcript: ENST00000514742
  gene symbol: FBN2
  hgvsc: ENST00000514742.1:n.874+15G>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.254+15G>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.254+15G>T
  variant of: http://identifiers.org/hgnc/3604
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19453
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21006
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2282
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33770
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.5e0
  variant carriers: 1
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 289
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8733
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 768
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1293
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505389293671343e-5
allele num: 66428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -8.62e-2

MQ
type: SiteQuality
SIO_000300: 5.946e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.096e0

QD
type: SiteQuality
SIO_000300: 1.296e1

MQRankSum
type: SiteQuality
SIO_000300: 1.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.348e0

FS
type: SiteQuality
SIO_000300: 9.88e-1

DP
type: SiteQuality
SIO_000300: 1.862322e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

GenotypeQuality
all individuals: 255
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8733
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 344
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.927525057825752e-4
allele num: 10376
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.89e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 1.995e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.705e0

QD
type: SiteQuality
SIO_000300: 1.339e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.73e-1

DP
type: SiteQuality
SIO_000300: 1.863524e6

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5849
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 768
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503397678753984e-5
allele num: 66516
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 9.83e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.47e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 1.096e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.317e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.84e-1

DP
type: SiteQuality
SIO_000300: 1.864217e6

GenotypeQuality
all individuals: 37
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1323
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41425
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8733
bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503171692270691e-5
allele num: 66526
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.646922631680494e-5
allele num: 10366
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

VQSLOD
type: SiteQuality
SIO_000300: 2.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.864902e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

QD
type: SiteQuality
SIO_000300: 9.390000000000001e0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
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: 4
allele frequency: 4.625346901017577e-4
allele num: 8648
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.26e0

FS
type: SiteQuality
SIO_000300: 2.504e0

QD
type: SiteQuality
SIO_000300: 1.135e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

MQRankSum
type: SiteQuality
SIO_000300: 3.75e-1

DP
type: SiteQuality
SIO_000300: 1.865089e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-2

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8731
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 6.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e0

FS
type: SiteQuality
SIO_000300: 6.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.67e0

VQSLOD
type: SiteQuality
SIO_000300: -5.383e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e0

QD
type: SiteQuality
SIO_000300: 2.34e0

DP
type: SiteQuality
SIO_000300: 1.865563e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 8733
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 342
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41419
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.739730816290858e-5
allele num: 11442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
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: 0
allele frequency: 0.0e0
allele num: 66532
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQ
type: SiteQuality
SIO_000300: 5.904e1

VQSLOD
type: SiteQuality
SIO_000300: -3.312e-1

DP
type: SiteQuality
SIO_000300: 1.86513e6

FS
type: SiteQuality
SIO_000300: 1.462e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.389e0

QD
type: SiteQuality
SIO_000300: 1.099e1

GenotypeQuality
all individuals: 5849
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1302
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1315
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41367
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.510599909788002e-5
allele num: 66510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.213444970270598e-4
allele num: 16482
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.656237929702588e-5
allele num: 10356
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 6.119951040391676e-4
allele num: 11438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

FS
type: SiteQuality
SIO_000300: 5.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.77e-1

MQ
type: SiteQuality
SIO_000300: 5.941e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-1

DP
type: SiteQuality
SIO_000300: 1.865491e6

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-1

QD
type: SiteQuality
SIO_000300: 1.111e1

GenotypeQuality
all individuals: 69
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1289
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
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: 3
allele frequency: 4.517528008673654e-5
allele num: 66408
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.277e0

VQSLOD
type: SiteQuality
SIO_000300: 7.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

MQRankSum
type: SiteQuality
SIO_000300: 8.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 1.862473e6

QD
type: SiteQuality
SIO_000300: 1.346e1

GenotypeQuality
all individuals: 5713
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1289
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 9
allele frequency: 8.763388510223953e-4
allele num: 10270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522301720200944e-5
allele num: 65690
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.795074758135444e-5
allele num: 11370
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.110228522546743e-5
allele num: 16366
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

MQRankSum
type: SiteQuality
SIO_000300: 5.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.334e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.845567e6

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5592
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8728
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1280
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16170
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538698261270965e-5
allele num: 64990
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10150
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.82078e6

MQ
type: SiteQuality
SIO_000300: 5.928e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.67e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.988e0

MQRankSum
type: SiteQuality
SIO_000300: 7.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.89e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.065e0

QD
type: SiteQuality
SIO_000300: 1.953e1

GenotypeQuality
all individuals: 8727
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 94
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1189
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63708
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8286
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.911067545891998e-5
allele num: 11222
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15938
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.066e0

DP
type: SiteQuality
SIO_000300: 1.760623e6

MQRankSum
type: SiteQuality
SIO_000300: 4.27e-1

FS
type: SiteQuality
SIO_000300: 6.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e0

MQ
type: SiteQuality
SIO_000300: 5.736e1

VQSLOD
type: SiteQuality
SIO_000300: -1.462e0

QD
type: SiteQuality
SIO_000300: 1.34e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

GenotypeQuality
all individuals: 530
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 437
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variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8726
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 487
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9634
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15736
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62496
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.24595066035385e-4
allele num: 8026
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.56e-1

DP
type: SiteQuality
SIO_000300: 1.648304e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.056e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

GenotypeQuality
all individuals: 5207
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8725
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1122
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3658
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 330
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61970
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7950
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11064
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.27762872109365e-4
allele num: 15654
num of homozygotes: 1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.95e-1

DP
type: SiteQuality
SIO_000300: 1.605332e6

MQ
type: SiteQuality
SIO_000300: 5.919e1

FS
type: SiteQuality
SIO_000300: 8.404e0

MQRankSum
type: SiteQuality
SIO_000300: 4.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

QD
type: SiteQuality
SIO_000300: 1.931e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

VQSLOD
type: SiteQuality
SIO_000300: -1.451e0

GenotypeQuality
all individuals: 326
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3492
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 528
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9444
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11042
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.620272853948605e-5
allele num: 61718
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.558e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.07e-1

DP
type: SiteQuality
SIO_000300: 1.585945e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.94e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.71e-1

GenotypeQuality
all individuals: 1098
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9229
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1807
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3498
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9344
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.630098131907541e-5
allele num: 61346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7794
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15530
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.312e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

QD
type: SiteQuality
SIO_000300: 3.349e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.45e-1

DP
type: SiteQuality
SIO_000300: 1.560364e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2587
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1049
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6539
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8724
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7582
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60618
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.298026998961578e-4
allele num: 15408
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.83e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

QD
type: SiteQuality
SIO_000300: 1.188e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

DP
type: SiteQuality
SIO_000300: 1.531584e6

VQSLOD
type: SiteQuality
SIO_000300: 5.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.034e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

GenotypeQuality
all individuals: 8689
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 683
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6510
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 15
allele frequency: 1.632208922742111e-3
allele num: 9190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10960
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.652947204866277e-5
allele num: 60498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15396
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.308e0

DP
type: SiteQuality
SIO_000300: 1.530779e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.24e0

QD
type: SiteQuality
SIO_000300: 1.639e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.93e0

MQRankSum
type: SiteQuality
SIO_000300: 3.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

GenotypeQuality
all individuals: 3238
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5319
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5458
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 484
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.133529811834051e-4
allele num: 8822
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7026
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.794857462269424e-4
allele num: 10734
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58538
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15076
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6352
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.473e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

DP
type: SiteQuality
SIO_000300: 1.502123e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.52e0

GenotypeQuality
all individuals: 7408
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7258
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3012
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58450
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8974
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9826
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7668
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.781500067815e-5
allele num: 14746
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4962
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-2

DP
type: SiteQuality
SIO_000300: 1.647914e6

FS
type: SiteQuality
SIO_000300: 1.791e0

MQRankSum
type: SiteQuality
SIO_000300: -3.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.028e0

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.015e1

GenotypeQuality
all individuals: 571
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7258
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 456
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3012
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58450
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9826
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4962
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8974
num of homozygotes: 0

East Asian
type: Population
allele count: 6
allele frequency: 7.82472613458529e-4
allele num: 7668
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14746
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-2

FS
type: SiteQuality
SIO_000300: 1.791e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

DP
type: SiteQuality
SIO_000300: 1.647914e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.028e0

MQRankSum
type: SiteQuality
SIO_000300: -3.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 1.015e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1672
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6329
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9834
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8952
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7688
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4966
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14762
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

FS
type: SiteQuality
SIO_000300: 2.629e0

DP
type: SiteQuality
SIO_000300: 1.652915e6

VQSLOD
type: SiteQuality
SIO_000300: 9.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

QD
type: SiteQuality
SIO_000300: 1.2e1

GenotypeQuality
all individuals: 374
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7254
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 15933
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6187
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.709167977028783e-5
allele num: 58508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9856
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4972
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8974
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.775067750677507e-5
allele num: 14760
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 1.661143e6

MQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

FS
type: SiteQuality
SIO_000300: 2.741e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.194e0

QD
type: SiteQuality
SIO_000300: 5.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e0

GenotypeQuality
all individuals: 5937
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 238
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 3071
bin: 4.75e1
variant carriers: 4

GenotypeQuality
all individuals: 369
bin: 1.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14794
num of homozygotes: 0

African
type: Population
allele count: 357
allele frequency: 3.956994014630903e-2
allele num: 9022
num of homozygotes: 9

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.403212632725293e-5
allele num: 58768
num of homozygotes: 0

Latino
type: Population
allele count: 17
allele frequency: 1.712673786016522e-3
allele num: 9926
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7706
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4998
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.340482573726542e-3
allele num: 746
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.73e-2

QD
type: SiteQuality
SIO_000300: 1.474e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 8.120000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.672369e6

GenotypeQuality
all individuals: 6039
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7233
bin: 9.75e1
variant carriers: 12

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.532801961986511e-4
allele num: 58716
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.76773145641581e-5
allele num: 14776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4976
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.59000259000259e-4
allele num: 7722
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9030
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

DP
type: SiteQuality
SIO_000300: 1.675621e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.71e0

FS
type: SiteQuality
SIO_000300: 5.631e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.41e0

MQRankSum
type: SiteQuality
SIO_000300: 2.31e-1

QD
type: SiteQuality
SIO_000300: 1.297e1

GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7228
bin: 9.75e1
variant carriers: 7

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9894
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.02291325695581e-4
allele num: 58656
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14758
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5024
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7680
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9022
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.28e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.637e0

QD
type: SiteQuality
SIO_000300: 9.1e0

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

FS
type: SiteQuality
SIO_000300: 1.082e0

DP
type: SiteQuality
SIO_000300: 1.689487e6

MQ
type: SiteQuality
SIO_000300: 5.125e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 2194
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2049
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9044
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.699350847976073e-5
allele num: 58846
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5036
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9918
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.830000000000001e-1

QD
type: SiteQuality
SIO_000300: 2.556e1

DP
type: SiteQuality
SIO_000300: 1.698919e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.31e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

VQSLOD
type: SiteQuality
SIO_000300: -1.524e0

GenotypeQuality
all individuals: 228
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22457
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2337
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3314
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9114
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14852
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5082
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10036
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.687023415885013e-5
allele num: 59276
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7780
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

QD
type: SiteQuality
SIO_000300: 5.46e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.309e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.613e0

DP
type: SiteQuality
SIO_000300: 1.717142e6

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

GenotypeQuality
all individuals: 1202
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10126
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5114
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9144
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7812
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 59524
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.714113065664025e-5
allele num: 14894
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.188e0

FS
type: SiteQuality
SIO_000300: 1.54e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.3e-2

DP
type: SiteQuality
SIO_000300: 1.752026e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 1.879e1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.670676289762096e-5
allele num: 59856
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5166
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7878
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9186
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14914
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10200
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.767361e6

FS
type: SiteQuality
SIO_000300: 1.328e0

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQ
type: SiteQuality
SIO_000300: 5.565e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

MQRankSum
type: SiteQuality
SIO_000300: -2.104e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.7e-2

QD
type: SiteQuality
SIO_000300: 1.912e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14918
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5166
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9198
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 59914
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.801317790167258e-4
allele num: 7892
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e-1

FS
type: SiteQuality
SIO_000300: 5.41e0

QD
type: SiteQuality
SIO_000300: 1.02e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

MQRankSum
type: SiteQuality
SIO_000300: 9.59e-1

DP
type: SiteQuality
SIO_000300: 1.773269e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5188
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
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South Asian
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allele count: 1
allele frequency: 6.697026520225021e-5
allele num: 14932
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60018
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQRankSum
type: SiteQuality
SIO_000300: 9.53e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.785238e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.107e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.035e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9232
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7922
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5214
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60216
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.680919294494922e-5
allele num: 14968
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

DP
type: SiteQuality
SIO_000300: 1.79231e6

QD
type: SiteQuality
SIO_000300: 8.09e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14992
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7938
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5228
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9250
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.656671415791392e-5
allele num: 60362
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.177e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

DP
type: SiteQuality
SIO_000300: 1.809501e6

FS
type: SiteQuality
SIO_000300: 6.733e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.62638649448655e-5
allele num: 61486
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9396
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5380
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 790
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15138
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8090
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.854677e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.339e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.95e-1

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.863e1

VQSLOD
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11140
num of homozygotes: 0

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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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64170
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.023541453428864e-4
allele num: 9770
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Other
type: Population
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allele num: 846
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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QD
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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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: 64236
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African
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South Asian
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allele frequency: 6.382435537401073e-5
allele num: 15668
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East Asian
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 846
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Latino
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FS
type: SiteQuality
SIO_000300: 2.846e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.12e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
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BaseQRankSum
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.95029e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.41e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 1.556759449529859e-5
allele num: 64236
num of homozygotes: 0

East Asian
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allele frequency: 1.184834123222749e-4
allele num: 8440
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South Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5726
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Other
type: Population
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African
type: Population
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.41e-1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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European (Finnish)
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Other
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East Asian
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allele frequency: 1.126126126126126e-2
allele num: 8436
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European (Non-Finnish)
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allele frequency: 1.562353529356623e-5
allele num: 64006
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South Asian
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allele count: 22
allele frequency: 1.406649616368287e-3
allele num: 15640
num of homozygotes: 0

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

African
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Other
type: Population
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allele frequency: 0.0e0
allele num: 840
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Latino
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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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South Asian
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8408
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.566612357438275e-5
allele num: 63832
num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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DP
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ReadPosRankSum
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SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.348e1

MQRankSum
type: SiteQuality
SIO_000300: -1.371e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.35e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 22

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

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

Latino
type: Population
allele count: 11
allele frequency: 9.967379485320768e-4
allele num: 11036
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.728472658705217e-4
allele num: 63640
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8378
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.62e-1

DP
type: SiteQuality
SIO_000300: 1.935515e6

FS
type: SiteQuality
SIO_000300: 1.155e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.14e-1

QD
type: SiteQuality
SIO_000300: 1.306e1

MQ
type: SiteQuality
SIO_000300: 5.815e1

VQSLOD
type: SiteQuality
SIO_000300: 4.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
all individuals: 789
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9656
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10982
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.196172248803828e-4
allele num: 8360
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63388
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5572
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.927674e6

VQSLOD
type: SiteQuality
SIO_000300: 4.08e0

QD
type: SiteQuality
SIO_000300: 1.28e1

MQRankSum
type: SiteQuality
SIO_000300: 8.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.69e-1

MQ
type: SiteQuality
SIO_000300: 6.051e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.54e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15398
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.187798603454613e-5
allele num: 10884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63024
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.77e-1

DP
type: SiteQuality
SIO_000300: 1.913324e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.932e1

FS
type: SiteQuality
SIO_000300: 1.445e0

QD
type: SiteQuality
SIO_000300: 9.07e0

VQSLOD
type: SiteQuality
SIO_000300: 1.73e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 550
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variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10820
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8292
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.512112529304507e-5
allele num: 15356
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 7.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.37e-1

DP
type: SiteQuality
SIO_000300: 1.909179e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.572e0

GenotypeQuality
all individuals: 1075
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7222
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8254
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15272
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.056189269117026e-4
allele num: 9468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10700
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.935e0

MQRankSum
type: SiteQuality
SIO_000300: 2.24e-1

DP
type: SiteQuality
SIO_000300: 1.89582e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.24e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.79e0

GenotypeQuality
all individuals: 368
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 630
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variant carriers: 0

GenotypeQuality
all individuals: 161
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9204
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7962
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.341201716738197e-4
allele num: 14912
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5150
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.051e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

DP
type: SiteQuality
SIO_000300: 1.83998e6

FS
type: SiteQuality
SIO_000300: 7.342e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.642e0

MQRankSum
type: SiteQuality
SIO_000300: 5.89e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.552e0

QD
type: SiteQuality
SIO_000300: 7.08e0

MQ
type: SiteQuality
SIO_000300: 5.796e1

GenotypeQuality
all individuals: 295
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5132
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10186
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7950
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.653439153439154e-5
allele num: 60480
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14896
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9180
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.83404e6

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -7.26e-1

FS
type: SiteQuality
SIO_000300: 1.935e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.12e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 351
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.262945188178833e-4
allele num: 7918
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14864
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5106
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9170
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.59e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.698e1

DP
type: SiteQuality
SIO_000300: 1.829816e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.69e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9116
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10008
num of homozygotes: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 1.002941963091736e-4
allele num: 59824
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5062
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.322e0

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQ
type: SiteQuality
SIO_000300: 5.845e1

FS
type: SiteQuality
SIO_000300: 1.204e0

QD
type: SiteQuality
SIO_000300: 1.235e1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 337
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14322
num of homozygotes: 0

Other
type: Population
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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)
type: Population
allele count: 1
allele frequency: 1.767971429581698e-5
allele num: 56562
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 8740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7374
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9128
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.117e0

MQRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.07e-1

MQ
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.889999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.03e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2301
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GenotypeQuality
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variant carriers: 2

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

Other
type: Population
allele count: 1
allele frequency: 1.432664756446991e-3
allele num: 698
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European (Non-Finnish)
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allele count: 157
allele frequency: 2.918107133563808e-3
allele num: 53802
num of homozygotes: 3

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4392
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.184834123222749e-4
allele num: 8440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13938
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.04e0

DP
type: SiteQuality
SIO_000300: 1.592798e6

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

FS
type: SiteQuality
SIO_000300: 1.493e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-2

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6936
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.860880568685102e-5
allele num: 53738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8460
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13914
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.536e0

FS
type: SiteQuality
SIO_000300: 5.836e0

VQSLOD
type: SiteQuality
SIO_000300: -9.199000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

QD
type: SiteQuality
SIO_000300: 9.5e-1

MQ
type: SiteQuality
SIO_000300: 5.309e1

DP
type: SiteQuality
SIO_000300: 1.57611e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.45e-1

GenotypeQuality
all individuals: 7216
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 684
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4312
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 7.267441860465116e-5
allele num: 13760
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 52936
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.82e0

MQRankSum
type: SiteQuality
SIO_000300: -1.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

DP
type: SiteQuality
SIO_000300: 1.540103e6

FS
type: SiteQuality
SIO_000300: 7.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.18e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.51e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6830
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 684
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4312
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 52936
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8276
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.267441860465116e-5
allele num: 13760
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.51e-1

InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.23e-1

DP
type: SiteQuality
SIO_000300: 1.540103e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

VQSLOD
type: SiteQuality
SIO_000300: 2.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

QD
type: SiteQuality
SIO_000300: 1.332e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13760
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 684
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.464128843338214e-4
allele num: 6830
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 52936
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8276
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4312
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

FS
type: SiteQuality
SIO_000300: 7.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.18e-2

QD
type: SiteQuality
SIO_000300: 1.332e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.540103e6

VQSLOD
type: SiteQuality
SIO_000300: 2.82e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52370
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.21921482565228e-4
allele num: 8202
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8104
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13654
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.196e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.9e-2

DP
type: SiteQuality
SIO_000300: 1.52445e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.258811681772407e-4
allele num: 7944
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51790
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8150
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4176
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13584
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6646
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.57e-1

DP
type: SiteQuality
SIO_000300: 1.500757e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.67e-1

QD
type: SiteQuality
SIO_000300: 1.088e1

MQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.253e0

FS
type: SiteQuality
SIO_000300: 7.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 234
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13518
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7770
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4102
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8060
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.951295660318452e-5
allele num: 51248
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.121e0

MQ
type: SiteQuality
SIO_000300: 5.838e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.71e-1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.12e-1

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.158e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8008
num of homozygotes: 0

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

South Asian
type: Population
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
allele num: 7686
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.537515375153752e-4
allele num: 6504
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 51008
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

FS
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.682e1

DP
type: SiteQuality
SIO_000300: 1.478447e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4048
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 50552
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Other
type: Population
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allele frequency: 0.0e0
allele num: 654
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African
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allele frequency: 1.254390366281987e-4
allele num: 7972
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 13428
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East Asian
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MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

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

MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 8.119999999999999e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7720
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.049684348610314e-5
allele num: 48788
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 3872
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East Asian
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7158
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.2e-3

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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African
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allele num: 7618
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East Asian
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South Asian
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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
allele num: 47922
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.21e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
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FS
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 290
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GenotypeQuality
all individuals: 344
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3462
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.394311210262131e-4
allele num: 7172
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5406
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 44338
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

VQSLOD
type: SiteQuality
SIO_000300: 2.9e0

MQRankSum
type: SiteQuality
SIO_000300: -7.81e-1

DP
type: SiteQuality
SIO_000300: 1.420632e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.046e1

QD
type: SiteQuality
SIO_000300: 1.646e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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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: 7172
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44338
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6038
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.968127490039841e-5
allele num: 12550
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3462
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.81e-1

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

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.07e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

DP
type: SiteQuality
SIO_000300: 1.420632e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11072
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6256
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60438
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.59108884787767e-5
allele num: 15172
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 2.469e0

VQSLOD
type: SiteQuality
SIO_000300: -2.08e0

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

DP
type: SiteQuality
SIO_000300: 1.414424e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.32e-1

MQ
type: SiteQuality
SIO_000300: 5.835e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2302
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.655135886656295e-5
allele num: 60418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6254
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15164
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.778972520908005e-4
allele num: 8370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11070
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.731e0

FS
type: SiteQuality
SIO_000300: 5.23e-1

QD
type: SiteQuality
SIO_000300: 1.208e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.39e-1

DP
type: SiteQuality
SIO_000300: 1.421271e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: -5.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60428
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.194172438500119e-4
allele num: 8374
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11084
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6254
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15180
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.24e0

FS
type: SiteQuality
SIO_000300: 4.113e0

QD
type: SiteQuality
SIO_000300: 6.79e0

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.741000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.74e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

DP
type: SiteQuality
SIO_000300: 1.42873e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60516
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.193317422434368e-4
allele num: 8380
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11078
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6252
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.434256e6

FS
type: SiteQuality
SIO_000300: 1.271e0

VQSLOD
type: SiteQuality
SIO_000300: 1.55e-1

QD
type: SiteQuality
SIO_000300: 1.29e1

MQ
type: SiteQuality
SIO_000300: 5.919e1

MQRankSum
type: SiteQuality
SIO_000300: -7.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15188
num of homozygotes: 0

East Asian
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allele count: 3
allele frequency: 3.581661891117478e-4
allele num: 8376
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6248
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11084
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60460
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.440316e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

FS
type: SiteQuality
SIO_000300: 1.644e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-1

QD
type: SiteQuality
SIO_000300: 1.045e1

VQSLOD
type: SiteQuality
SIO_000300: -6.75e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.997e0

MQRankSum
type: SiteQuality
SIO_000300: 4.84e-1

MQ
type: SiteQuality
SIO_000300: 5.879e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11088
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15200
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6252
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8370
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.653439153439154e-5
allele num: 60480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

DP
type: SiteQuality
SIO_000300: 1.442824e6

FS
type: SiteQuality
SIO_000300: 3.561e0

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -4.2e-2

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

MQ
type: SiteQuality
SIO_000300: 5.938e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6228
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.652510162937502e-5
allele num: 60514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
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East Asian
type: Population
allele count: 0
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allele num: 8368
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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
SIO_000300: -6.73e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
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African
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
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Latino
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.651091371396493e-5
allele num: 60566
num of homozygotes: 0

South Asian
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 7.4e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.939e0

DP
type: SiteQuality
SIO_000300: 1.454301e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 1.803751803751804e-4
allele num: 11088
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60580
num of homozygotes: 0

African
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Other
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East Asian
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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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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6194
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VQSLOD
type: SiteQuality
SIO_000300: -2.628e-1

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

DP
type: SiteQuality
SIO_000300: 1.458381e6

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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