18-33706890-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33706890
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33706890
    reference: chr 18
allele count: 2
allele frequency: 1.658622348277521e-5
allele num: 120582
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000269187
  ensembl transcript: ENST00000269187
  gene symbol: SLC39A6
  hgvsc: ENST00000269187.5:c.81T>C
  hgvsp: ENST00000269187.5:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000401139
  ensembl transcript: ENST00000440549
  gene symbol: SLC39A6
  hgvsc: ENST00000440549.2:c.-37+2187T>C
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000465915
  ensembl transcript: ENST00000590986
  gene symbol: SLC39A6
  hgvsc: ENST00000590986.1:c.81T>C
  hgvsp: ENST00000590986.1:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18607
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2583
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45249
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6932
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala27Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

18-33706899-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33706899
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33706899
    reference: chr 18
allele count: 1
allele frequency: 8.296964970213896e-6
allele num: 120526
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000465915
  ensembl transcript: ENST00000590986
  gene symbol: SLC39A6
  hgvsc: ENST00000590986.1:c.72A>G
  hgvsp: ENST00000590986.1:c.72A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000401139
  ensembl transcript: ENST00000440549
  gene symbol: SLC39A6
  hgvsc: ENST00000440549.2:c.-37+2178A>G
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000269187
  ensembl transcript: ENST00000269187
  gene symbol: SLC39A6
  hgvsc: ENST00000269187.5:c.72A>G
  hgvsp: ENST00000269187.5:c.72A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18607
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6918
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2582
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45260
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu24Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

18-33706900-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33706900
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33706900
    reference: chr 18
allele count: 1
allele frequency: 8.297653423611802e-6
allele num: 120516
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000465915
  ensembl transcript: ENST00000590986
  gene symbol: SLC39A6
  hgvsc: ENST00000590986.1:c.71T>C
  hgvsp: ENSP00000465915.1:p.Leu24Pro
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000269187
  ensembl transcript: ENST00000269187
  gene symbol: SLC39A6
  hgvsc: ENST00000269187.5:c.71T>C
  hgvsp: ENSP00000269187.4:p.Leu24Pro
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000401139
  ensembl transcript: ENST00000440549
  gene symbol: SLC39A6
  hgvsc: ENST00000440549.2:c.-37+2177T>C
  variant of: http://identifiers.org/hgnc/18607
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6918
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 496
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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: 1760
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu24Pro
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD

18-33706901-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33706901
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33706901
    reference: chr 18
allele count: 1
allele frequency: 8.298204268596276e-6
allele num: 120508
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000401139
  ensembl transcript: ENST00000440549
  gene symbol: SLC39A6
  hgvsc: ENST00000440549.2:c.-37+2176C>T
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000269187
  ensembl transcript: ENST00000269187
  gene symbol: SLC39A6
  hgvsc: ENST00000269187.5:c.70C>T
  hgvsp: ENST00000269187.5:c.70C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000465915
  ensembl transcript: ENST00000590986
  gene symbol: SLC39A6
  hgvsc: ENST00000590986.1:c.70C>T
  hgvsp: ENST00000590986.1:c.70C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18607
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6914
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2582
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu24Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

18-33706906-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33706906
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33706906
    reference: chr 18
allele count: 1
allele frequency: 8.299443937256203e-6
allele num: 120490
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000401139
  ensembl transcript: ENST00000440549
  gene symbol: SLC39A6
  hgvsc: ENST00000440549.2:c.-37+2171A>G
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000465915
  ensembl transcript: ENST00000590986
  gene symbol: SLC39A6
  hgvsc: ENST00000590986.1:c.65A>G
  hgvsp: ENSP00000465915.1:p.His22Arg
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000269187
  ensembl transcript: ENST00000269187
  gene symbol: SLC39A6
  hgvsc: ENST00000269187.5:c.65A>G
  hgvsp: ENSP00000269187.4:p.His22Arg
  variant of: http://identifiers.org/hgnc/18607
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6915
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1756
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45208
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1644
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2580
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His22Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

18-33706912-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33706912
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33706912
    reference: chr 18
allele count: 1
allele frequency: 8.300959590928711e-6
allele num: 120468
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000269187
  ensembl transcript: ENST00000269187
  gene symbol: SLC39A6
  hgvsc: ENST00000269187.5:c.59C>G
  hgvsp: ENSP00000269187.4:p.Pro20Arg
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000465915
  ensembl transcript: ENST00000590986
  gene symbol: SLC39A6
  hgvsc: ENST00000590986.1:c.59C>G
  hgvsp: ENSP00000465915.1:p.Pro20Arg
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000401139
  ensembl transcript: ENST00000440549
  gene symbol: SLC39A6
  hgvsc: ENST00000440549.2:c.-37+2165C>G
  variant of: http://identifiers.org/hgnc/18607
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22137
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1751
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6904
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2578
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45207
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro20Arg
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

18-33706924-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33706924
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33706924
    reference: chr 18
allele count: 1
allele frequency: 8.306337735692333e-6
allele num: 120390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000401139
  ensembl transcript: ENST00000440549
  gene symbol: SLC39A6
  hgvsc: ENST00000440549.2:c.-37+2153C>T
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000269187
  ensembl transcript: ENST00000269187
  gene symbol: SLC39A6
  hgvsc: ENST00000269187.5:c.47C>T
  hgvsp: ENSP00000269187.4:p.Ser16Phe
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000465915
  ensembl transcript: ENST00000590986
  gene symbol: SLC39A6
  hgvsc: ENST00000590986.1:c.47C>T
  hgvsp: ENSP00000465915.1:p.Ser16Phe
  variant of: http://identifiers.org/hgnc/18607
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2575
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45158
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6888
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser16Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

18-33706924-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33706924
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33706924
    reference: chr 18
allele count: 1
allele frequency: 8.306337735692333e-6
allele num: 120390
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000269187
  ensembl transcript: ENST00000269187
  gene symbol: SLC39A6
  hgvsc: ENST00000269187.5:c.47C>G
  hgvsp: ENSP00000269187.4:p.Ser16Cys
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000401139
  ensembl transcript: ENST00000440549
  gene symbol: SLC39A6
  hgvsc: ENST00000440549.2:c.-37+2153C>G
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000465915
  ensembl transcript: ENST00000590986
  gene symbol: SLC39A6
  hgvsc: ENST00000590986.1:c.47C>G
  hgvsp: ENSP00000465915.1:p.Ser16Cys
  variant of: http://identifiers.org/hgnc/18607
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45158
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6888
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2575
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser16Cys
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum

18-33706926-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33706926
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33706926
    reference: chr 18
allele count: 3
allele frequency: 2.492232541911044e-5
allele num: 120374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000465915
  ensembl transcript: ENST00000590986
  gene symbol: SLC39A6
  hgvsc: ENST00000590986.1:c.45C>T
  hgvsp: ENST00000590986.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000269187
  ensembl transcript: ENST00000269187
  gene symbol: SLC39A6
  hgvsc: ENST00000269187.5:c.45C>T
  hgvsp: ENST00000269187.5:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000401139
  ensembl transcript: ENST00000440549
  gene symbol: SLC39A6
  hgvsc: ENST00000440549.2:c.-37+2151C>T
  variant of: http://identifiers.org/hgnc/18607
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24985
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2576
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6886
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu15Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD

18-33706928-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33706928
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33706928
    reference: chr 18
allele count: 1
allele frequency: 8.30827005200977e-6
allele num: 120362
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000269187
  ensembl transcript: ENST00000269187
  gene symbol: SLC39A6
  hgvsc: ENST00000269187.5:c.43C>T
  hgvsp: ENSP00000269187.4:p.Leu15Phe
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000465915
  ensembl transcript: ENST00000590986
  gene symbol: SLC39A6
  hgvsc: ENST00000590986.1:c.43C>T
  hgvsp: ENSP00000465915.1:p.Leu15Phe
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000401139
  ensembl transcript: ENST00000440549
  gene symbol: SLC39A6
  hgvsc: ENST00000440549.2:c.-37+2149C>T
  variant of: http://identifiers.org/hgnc/18607
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22097
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45112
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2573
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6879
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu15Phe
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

18-33706930-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33706930
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33706930
    reference: chr 18
allele count: 3
allele frequency: 2.493516856173948e-5
allele num: 120312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000401139
  ensembl transcript: ENST00000440549
  gene symbol: SLC39A6
  hgvsc: ENST00000440549.2:c.-37+2147C>G
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000465915
  ensembl transcript: ENST00000590986
  gene symbol: SLC39A6
  hgvsc: ENST00000590986.1:c.41C>G
  hgvsp: ENSP00000465915.1:p.Ala14Gly
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000269187
  ensembl transcript: ENST00000269187
  gene symbol: SLC39A6
  hgvsc: ENST00000269187.5:c.41C>G
  hgvsp: ENSP00000269187.4:p.Ala14Gly
  variant of: http://identifiers.org/hgnc/18607
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24970
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22077
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6864
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1739
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2573
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 925
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45035
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala14Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

18-33706931-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33706931
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33706931
    reference: chr 18
allele count: 8
allele frequency: 6.649709906405333e-5
allele num: 120306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000465915
  ensembl transcript: ENST00000590986
  gene symbol: SLC39A6
  hgvsc: ENST00000590986.1:c.40G>A
  hgvsp: ENSP00000465915.1:p.Ala14Thr
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000269187
  ensembl transcript: ENST00000269187
  gene symbol: SLC39A6
  hgvsc: ENST00000269187.5:c.40G>A
  hgvsp: ENSP00000269187.4:p.Ala14Thr
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000401139
  ensembl transcript: ENST00000440549
  gene symbol: SLC39A6
  hgvsc: ENST00000440549.2:c.-37+2146G>A
  variant of: http://identifiers.org/hgnc/18607
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7509
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22088
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6847
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1611
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45038
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2574
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala14Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: FS

18-33706943-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33706943
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33706943
    reference: chr 18
allele count: 1
allele frequency: 8.324869715788949e-6
allele num: 120122
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000401139
  ensembl transcript: ENST00000440549
  gene symbol: SLC39A6
  hgvsc: ENST00000440549.2:c.-37+2134A>G
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000465915
  ensembl transcript: ENST00000590986
  gene symbol: SLC39A6
  hgvsc: ENST00000590986.1:c.28A>G
  hgvsp: ENSP00000465915.1:p.Ile10Val
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000269187
  ensembl transcript: ENST00000269187
  gene symbol: SLC39A6
  hgvsc: ENST00000269187.5:c.28A>G
  hgvsp: ENSP00000269187.4:p.Ile10Val
  variant of: http://identifiers.org/hgnc/18607
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24899
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1883
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2556
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44879
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6780
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile10Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD

18-33706954-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33706954
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33706954
    reference: chr 18
allele count: 2
allele frequency: 1.671486118307788e-5
allele num: 119654
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000465915
  ensembl transcript: ENST00000590986
  gene symbol: SLC39A6
  hgvsc: ENST00000590986.1:c.17C>A
  hgvsp: ENSP00000465915.1:p.Ser6Tyr
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000401139
  ensembl transcript: ENST00000440549
  gene symbol: SLC39A6
  hgvsc: ENST00000440549.2:c.-37+2123C>A
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000269187
  ensembl transcript: ENST00000269187
  gene symbol: SLC39A6
  hgvsc: ENST00000269187.5:c.17C>A
  hgvsp: ENSP00000269187.4:p.Ser6Tyr
  variant of: http://identifiers.org/hgnc/18607
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 197
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genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6633
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1643
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1015
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2544
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 44340
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 397
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser6Tyr
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

18-33706958-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33706958
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33706958
    reference: chr 18
allele count: 1
allele frequency: 8.381948635418762e-6
allele num: 119304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000465915
  ensembl transcript: ENST00000590986
  gene symbol: SLC39A6
  hgvsc: ENST00000590986.1:c.13T>A
  hgvsp: ENSP00000465915.1:p.Leu5Ile
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000401139
  ensembl transcript: ENST00000440549
  gene symbol: SLC39A6
  hgvsc: ENST00000440549.2:c.-37+2119T>A
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000269187
  ensembl transcript: ENST00000269187
  gene symbol: SLC39A6
  hgvsc: ENST00000269187.5:c.13T>A
  hgvsp: ENSP00000269187.4:p.Leu5Ile
  variant of: http://identifiers.org/hgnc/18607
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21598
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6599
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 462
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43697
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu5Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD

18-33706959-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33706959
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33706959
    reference: chr 18
allele count: 1
allele frequency: 8.387432271484408e-6
allele num: 119226
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000269187
  ensembl transcript: ENST00000269187
  gene symbol: SLC39A6
  hgvsc: ENST00000269187.5:c.12G>A
  hgvsp: ENST00000269187.5:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000465915
  ensembl transcript: ENST00000590986
  gene symbol: SLC39A6
  hgvsc: ENST00000590986.1:c.12G>A
  hgvsp: ENST00000590986.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000401139
  ensembl transcript: ENST00000440549
  gene symbol: SLC39A6
  hgvsc: ENST00000440549.2:c.-37+2118G>A
  variant of: http://identifiers.org/hgnc/18607
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 24246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 43595
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 392
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genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 284
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genotype quality: GenotypeQuality
  all individuals: 273
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6573
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys4Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

18-33706960-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33706960
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33706960
    reference: chr 18
allele count: 2
allele frequency: 1.680926526701518e-5
allele num: 118982
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000401139
  ensembl transcript: ENST00000440549
  gene symbol: SLC39A6
  hgvsc: ENST00000440549.2:c.-37+2117A>G
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000465915
  ensembl transcript: ENST00000590986
  gene symbol: SLC39A6
  hgvsc: ENST00000590986.1:c.11A>G
  hgvsp: ENSP00000465915.1:p.Lys4Arg
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000269187
  ensembl transcript: ENST00000269187
  gene symbol: SLC39A6
  hgvsc: ENST00000269187.5:c.11A>G
  hgvsp: ENSP00000269187.4:p.Lys4Arg
  variant of: http://identifiers.org/hgnc/18607
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1788
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24057
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43054
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1800
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2547
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6506
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys4Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum

18-33706962-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33706962
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33706962
    reference: chr 18
allele count: 1
allele frequency: 8.410994852471151e-6
allele num: 118892
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000401139
  ensembl transcript: ENST00000440549
  gene symbol: SLC39A6
  hgvsc: ENST00000440549.2:c.-37+2115G>A
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000465915
  ensembl transcript: ENST00000590986
  gene symbol: SLC39A6
  hgvsc: ENST00000590986.1:c.9G>A
  hgvsp: ENST00000590986.1:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000269187
  ensembl transcript: ENST00000269187
  gene symbol: SLC39A6
  hgvsc: ENST00000269187.5:c.9G>A
  hgvsp: ENST00000269187.5:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18607
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24070
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6479
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2541
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1838
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1480
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg3Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

18-33706963-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33706963
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33706963
    reference: chr 18
allele count: 1
allele frequency: 8.438391305081599e-6
allele num: 118506
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000401139
  ensembl transcript: ENST00000440549
  gene symbol: SLC39A6
  hgvsc: ENST00000440549.2:c.-37+2114G>A
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000465915
  ensembl transcript: ENST00000590986
  gene symbol: SLC39A6
  hgvsc: ENST00000590986.1:c.8G>A
  hgvsp: ENSP00000465915.1:p.Arg3Lys
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000269187
  ensembl transcript: ENST00000269187
  gene symbol: SLC39A6
  hgvsc: ENST00000269187.5:c.8G>A
  hgvsp: ENSP00000269187.4:p.Arg3Lys
  variant of: http://identifiers.org/hgnc/18607
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1585
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2247
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6382
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42449
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg3Lys
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: C
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

18-33706964-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33706964
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33706964
    reference: chr 18
allele count: 1
allele frequency: 8.436825053995681e-6
allele num: 118528
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000401139
  ensembl transcript: ENST00000440549
  gene symbol: SLC39A6
  hgvsc: ENST00000440549.2:c.-37+2113A>T
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000465915
  ensembl transcript: ENST00000590986
  gene symbol: SLC39A6
  hgvsc: ENST00000590986.1:c.7A>T
  hgvsp: ENSP00000465915.1:p.Arg3Trp
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000269187
  ensembl transcript: ENST00000269187
  gene symbol: SLC39A6
  hgvsc: ENST00000269187.5:c.7A>T
  hgvsp: ENSP00000269187.4:p.Arg3Trp
  variant of: http://identifiers.org/hgnc/18607
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6903
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6397
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 409
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 9.75e1
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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: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 24
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genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 456
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 393
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42566
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg3Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

18-33706965-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33706965
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33706965
    reference: chr 18
allele count: 1
allele frequency: 8.458948721852847e-6
allele num: 118218
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000465915
  ensembl transcript: ENST00000590986
  gene symbol: SLC39A6
  hgvsc: ENST00000590986.1:c.6G>A
  hgvsp: ENST00000590986.1:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000401139
  ensembl transcript: ENST00000440549
  gene symbol: SLC39A6
  hgvsc: ENST00000440549.2:c.-37+2112G>A
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000269187
  ensembl transcript: ENST00000269187
  gene symbol: SLC39A6
  hgvsc: ENST00000269187.5:c.6G>A
  hgvsp: ENST00000269187.5:c.6G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/18607
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20971
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 569
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1898
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6853
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2537
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6275
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1560
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2475
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1461
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41917
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 868
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala2Ala
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS

18-33706967-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33706967
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33706967
    reference: chr 18
allele count: 1
allele frequency: 8.457231778894133e-6
allele num: 118242
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000269187
  ensembl transcript: ENST00000269187
  gene symbol: SLC39A6
  hgvsc: ENST00000269187.5:c.4G>C
  hgvsp: ENSP00000269187.4:p.Ala2Pro
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000465915
  ensembl transcript: ENST00000590986
  gene symbol: SLC39A6
  hgvsc: ENST00000590986.1:c.4G>C
  hgvsp: ENSP00000465915.1:p.Ala2Pro
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000401139
  ensembl transcript: ENST00000440549
  gene symbol: SLC39A6
  hgvsc: ENST00000440549.2:c.-37+2110G>C
  variant of: http://identifiers.org/hgnc/18607
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1929
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21048
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42244
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2538
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6250
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 389
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala2Pro
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

18-33706970-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33706970
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33706970
    reference: chr 18
allele count: 1
allele frequency: 8.50065455040038e-6
allele num: 117638
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000465915
  ensembl transcript: ENST00000590986
  gene symbol: SLC39A6
  hgvsc: ENST00000590986.1:c.1A>G
  hgvsp: ENSP00000465915.1:p.Met1?
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000401139
  ensembl transcript: ENST00000440549
  gene symbol: SLC39A6
  hgvsc: ENST00000440549.2:c.-37+2107A>G
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000269187
  ensembl transcript: ENST00000269187
  gene symbol: SLC39A6
  hgvsc: ENST00000269187.5:c.1A>G
  hgvsp: ENSP00000269187.4:p.Met1?
  variant of: http://identifiers.org/hgnc/18607
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 850
  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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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3201
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41553
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2528
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 320
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 440
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genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 381
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6183
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1420
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/18-33706973-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33706973
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33706973
    reference: chr 18
allele count: 1
allele frequency: 8.571036752605596e-6
allele num: 116672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000401139
  ensembl transcript: ENST00000440549
  gene symbol: SLC39A6
  hgvsc: ENST00000440549.2:c.-37+2104G>T
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000465915
  ensembl transcript: ENST00000590986
  gene symbol: SLC39A6
  hgvsc: ENST00000590986.1:c.-3G>T
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000269187
  ensembl transcript: ENST00000269187
  gene symbol: SLC39A6
  hgvsc: ENST00000269187.5:c.-3G>T
  variant of: http://identifiers.org/hgnc/18607
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2521
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 5933
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4031
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

18-33706973-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33706973
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33706973
    reference: chr 18
allele count: 1
allele frequency: 8.571036752605596e-6
allele num: 116672
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000465915
  ensembl transcript: ENST00000590986
  gene symbol: SLC39A6
  hgvsc: ENST00000590986.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000401139
  ensembl transcript: ENST00000440549
  gene symbol: SLC39A6
  hgvsc: ENST00000440549.2:c.-37+2104G>A
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000269187
  ensembl transcript: ENST00000269187
  gene symbol: SLC39A6
  hgvsc: ENST00000269187.5:c.-3G>A
  variant of: http://identifiers.org/hgnc/18607
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22275
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1459
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2521
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4031
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5933
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 847
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1372
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

18-33706974-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33706974
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33706974
    reference: chr 18
allele count: 4
allele frequency: 3.432239021125431e-5
allele num: 116542
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000269187
  ensembl transcript: ENST00000269187
  gene symbol: SLC39A6
  hgvsc: ENST00000269187.5:c.-4C>T
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000401139
  ensembl transcript: ENST00000440549
  gene symbol: SLC39A6
  hgvsc: ENST00000440549.2:c.-37+2103C>T
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000465915
  ensembl transcript: ENST00000590986
  gene symbol: SLC39A6
  hgvsc: ENST00000590986.1:c.-4C>T
  variant of: http://identifiers.org/hgnc/18607
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19961
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2524
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5878
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1360
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4396
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

18-33706975-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33706975
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33706975
    reference: chr 18
allele count: 1
allele frequency: 8.599783285461207e-6
allele num: 116282
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000465915
  ensembl transcript: ENST00000590986
  gene symbol: SLC39A6
  hgvsc: ENST00000590986.1:c.-5G>C
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000269187
  ensembl transcript: ENST00000269187
  gene symbol: SLC39A6
  hgvsc: ENST00000269187.5:c.-5G>C
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000401139
  ensembl transcript: ENST00000440549
  gene symbol: SLC39A6
  hgvsc: ENST00000440549.2:c.-37+2102G>C
  variant of: http://identifiers.org/hgnc/18607
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21613
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4703
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5847
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2520
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39026
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

18-33706988-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33706988
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33706988
    reference: chr 18
allele count: 2
allele frequency: 1.77000548701701e-5
allele num: 112994
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000269187
  ensembl transcript: ENST00000269187
  gene symbol: SLC39A6
  hgvsc: ENST00000269187.5:c.-9-9C>T
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000401139
  ensembl transcript: ENST00000440549
  gene symbol: SLC39A6
  hgvsc: ENST00000440549.2:c.-37+2089C>T
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000465915
  ensembl transcript: ENST00000590986
  gene symbol: SLC39A6
  hgvsc: ENST00000590986.1:c.-9-9C>T
  variant of: http://identifiers.org/hgnc/18607
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9058
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16390
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30113
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4465
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 366
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

18-33706988-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33706988
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33706988
    reference: chr 18
allele count: 1
allele frequency: 8.850027435085049e-6
allele num: 112994
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000465915
  ensembl transcript: ENST00000590986
  gene symbol: SLC39A6
  hgvsc: ENST00000590986.1:c.-9-9C>G
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000401139
  ensembl transcript: ENST00000440549
  gene symbol: SLC39A6
  hgvsc: ENST00000440549.2:c.-37+2089C>G
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000269187
  ensembl transcript: ENST00000269187
  gene symbol: SLC39A6
  hgvsc: ENST00000269187.5:c.-9-9C>G
  variant of: http://identifiers.org/hgnc/18607
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9058
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2850
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1228
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8746
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4465
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30113
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 777
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1200
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS

18-33706990-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33706990
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33706990
    reference: chr 18
allele count: 2
allele frequency: 1.777209070875098e-5
allele num: 112536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000465915
  ensembl transcript: ENST00000590986
  gene symbol: SLC39A6
  hgvsc: ENST00000590986.1:c.-9-11G>A
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000269187
  ensembl transcript: ENST00000269187
  gene symbol: SLC39A6
  hgvsc: ENST00000269187.5:c.-9-11G>A
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000401139
  ensembl transcript: ENST00000440549
  gene symbol: SLC39A6
  hgvsc: ENST00000440549.2:c.-37+2087G>A
  variant of: http://identifiers.org/hgnc/18607
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9667
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2633
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9092
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28635
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4379
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

18-33706992-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33706992
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33706992
    reference: chr 18
allele count: 4
allele frequency: 3.565125938073763e-5
allele num: 112198
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000269187
  ensembl transcript: ENST00000269187
  gene symbol: SLC39A6
  hgvsc: ENST00000269187.5:c.-9-13C>T
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000465915
  ensembl transcript: ENST00000590986
  gene symbol: SLC39A6
  hgvsc: ENST00000590986.1:c.-9-13C>T
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000401139
  ensembl transcript: ENST00000440549
  gene symbol: SLC39A6
  hgvsc: ENST00000440549.2:c.-37+2085C>T
  variant of: http://identifiers.org/hgnc/18607
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3411
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15272
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2168
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4307
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 775
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9415
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3403
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27677
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 9.75e1
  variant carriers: 4
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

18-33706993-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33706993
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33706994
    reference: chr 18
allele count: 41
allele frequency: 3.923369887657652e-4
allele num: 104502
alternate allele: GA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000269187
  ensembl transcript: ENST00000269187
  gene symbol: SLC39A6
  hgvsc: ENST00000269187.5:c.-9-15dupT
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000465915
  ensembl transcript: ENST00000590986
  gene symbol: SLC39A6
  hgvsc: ENST00000590986.1:c.-9-15dupT
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000401139
  ensembl transcript: ENST00000440549
  gene symbol: SLC39A6
  hgvsc: ENST00000440549.2:c.-37+2083dupT
  variant of: http://identifiers.org/hgnc/18607
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10503
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15198
  bin: 2.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 1.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14950
  bin: 2.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5384
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9505
  bin: 2.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 23928
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3195
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3467
  bin: 3.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3027
  bin: 2.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 1.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 2.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 1.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 3.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

18-33706993-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33706993
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33706992
    reference: chr 18
allele count: 40
allele frequency: 3.827677939178198e-4
allele num: 104502
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000465915
  ensembl transcript: ENST00000590986
  gene symbol: SLC39A6
  hgvsc: ENST00000590986.1:c.-9-15delT
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000401139
  ensembl transcript: ENST00000440549
  gene symbol: SLC39A6
  hgvsc: ENST00000440549.2:c.-37+2083delT
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000269187
  ensembl transcript: ENST00000269187
  gene symbol: SLC39A6
  hgvsc: ENST00000269187.5:c.-9-15delT
  variant of: http://identifiers.org/hgnc/18607
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5384
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15198
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 14950
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10503
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9505
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3027
  bin: 2.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 3467
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 2.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3195
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23928
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 5.25e1
  variant carriers: 3
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: GA
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

18-33706993-GAAAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33706993
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33706989
    reference: chr 18
allele count: 1
allele frequency: 9.569194847945493e-6
allele num: 104502
alternate allele: G
canonical: false
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 1.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 4.25e1
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genotype depth: GenotypeDepth
  all individuals: 294
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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: 14950
  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1881
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genotype depth: GenotypeDepth
  all individuals: 434
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 2357
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 380
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 598
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3467
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.69756230053643e-5
  allele num: 58908
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 774
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10244
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6332
  num of homozygotes: 0
population: East Asian
population: African
population: South Asian
reference allele: GAAAA
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

18-33707008-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33707008
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33707008
    reference: chr 18
allele count: 1
allele frequency: 9.337765659433012e-6
allele num: 107092
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000465915
  ensembl transcript: ENST00000590986
  gene symbol: SLC39A6
  hgvsc: ENST00000590986.1:c.-9-29C>G
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000269187
  ensembl transcript: ENST00000269187
  gene symbol: SLC39A6
  hgvsc: ENST00000269187.5:c.-9-29C>G
  variant of: http://identifiers.org/hgnc/18607
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000141424
  ensembl protein: ENSP00000401139
  ensembl transcript: ENST00000440549
  gene symbol: SLC39A6
  hgvsc: ENST00000440549.2:c.-37+2069C>G
  variant of: http://identifiers.org/hgnc/18607
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 11269
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 323
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

18-33709792-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709792
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709792
    reference: chr 18
allele count: 1
allele frequency: 1.13520263367011e-5
allele num: 88090
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+332T>C
  variant of: http://identifiers.org/hgnc/18248
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6076
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 640
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 14170
  num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

18-33709794-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709794
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709794
    reference: chr 18
allele count: 52
allele frequency: 5.933228360831565e-4
allele num: 87642
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+334C>G
  variant of: http://identifiers.org/hgnc/18248
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2035
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20072
  bin: 1.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 6
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 21
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.25e1
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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
  all individuals: 562
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genotype quality: GenotypeQuality
  all individuals: 624
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num of homozygotes: 1
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3904
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population: Other
  type: Population
  allele count: 4
  allele frequency: 6.389776357827476e-3
  allele num: 626
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 22
  allele frequency: 4.517453798767967e-4
  allele num: 48700
  num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

18-33709799-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709799
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709799
    reference: chr 18
allele count: 2
allele frequency: 2.246131039284832e-5
allele num: 89042
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+339C>G
  variant of: http://identifiers.org/hgnc/18248
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19276
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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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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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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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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 3672
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6134
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4062
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 2
  allele frequency: 4.044652968775279e-5
  allele num: 49448
  num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

18-33709799-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709799
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709799
    reference: chr 18
allele count: 4
allele frequency: 4.492262078569664e-5
allele num: 89042
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+339C>T
  variant of: http://identifiers.org/hgnc/18248
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 2.5e0
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genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 191
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  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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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 640
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 4
  allele frequency: 8.089305937550558e-5
  allele num: 49448
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6738
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

18-33709800-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709800
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709800
    reference: chr 18
allele count: 2
allele frequency: 2.236586075015097e-5
allele num: 89422
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+340G>C
  variant of: http://identifiers.org/hgnc/18248
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6530
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 520
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
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  allele num: 7850
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population: Other
  type: Population
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  allele num: 642
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population: South Asian
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  allele frequency: 0.0e0
  allele num: 14236
  num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

18-33709803-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709803
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709803
    reference: chr 18
allele count: 1
allele frequency: 1.103314356326405e-5
allele num: 90636
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+343G>A
  variant of: http://identifiers.org/hgnc/18248
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: South Asian
  type: Population
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population: African
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population: European (Non-Finnish)
  type: Population
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  allele frequency: 1.988862370723946e-5
  allele num: 50280
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/18-33709827-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709827
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709827
    reference: chr 18
allele count: 1
allele frequency: 9.257887720337728e-6
allele num: 108016
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+367C>A
  variant of: http://identifiers.org/hgnc/18248
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 1699
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32063
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6901
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3787
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 786
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7680
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5428
  num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS

18-33709828-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709828
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709828
    reference: chr 18
allele count: 9
allele frequency: 8.261428309161006e-5
allele num: 108940
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+368C>G
  variant of: http://identifiers.org/hgnc/18248
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35414
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3877
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
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genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7125
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 8
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 494
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 667
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1400
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 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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  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5496
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 9
  allele frequency: 1.15859938208033e-3
  allele num: 7768
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15358
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

18-33709828-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709828
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709828
    reference: chr 18
allele count: 3
allele frequency: 2.753809436387002e-5
allele num: 108940
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+368C>T
  variant of: http://identifiers.org/hgnc/18248
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2834
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35414
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6416
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 494
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 792
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 60648
  num of homozygotes: 0
population: African
  type: Population
  allele count: 3
  allele frequency: 3.420752565564424e-4
  allele num: 8770
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/18-33709830-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709830
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709830
    reference: chr 18
allele count: 2
allele frequency: 1.802743776027113e-5
allele num: 110942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+370C>A
  variant of: http://identifiers.org/hgnc/18248
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7507
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 521
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10392
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 15482
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5644
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

18-33709841-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709841
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709841
    reference: chr 18
allele count: 1
allele frequency: 8.520500323779012e-6
allele num: 117364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+381C>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000350967
  ensembl transcript: ENST00000358232
  gene symbol: ELP2
  hgvsc: ENST00000358232.6:c.-56C>G
  variant of: http://identifiers.org/hgnc/18248
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3593
  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6146
  num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/18-33709842-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709842
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709842
    reference: chr 18
allele count: 1
allele frequency: 8.483779014524229e-6
allele num: 117872
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+382C>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000350967
  ensembl transcript: ENST00000358232
  gene symbol: ELP2
  hgvsc: ENST00000358232.6:c.-55C>A
  variant of: http://identifiers.org/hgnc/18248
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3926
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38479
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6562
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 828
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9864
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP

18-33709842-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709842
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709842
    reference: chr 18
allele count: 8
allele frequency: 6.787023211619383e-5
allele num: 117872
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+382C>T
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000350967
  ensembl transcript: ENST00000358232
  gene symbol: ELP2
  hgvsc: ENST00000358232.6:c.-55C>T
  variant of: http://identifiers.org/hgnc/18248
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9037
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.75e1
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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: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 21
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 986
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6562
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 38479
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genotype quality: GenotypeQuality
  all individuals: 3926
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
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  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 862
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

18-33709844-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709844
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709844
    reference: chr 18
allele count: 1
allele frequency: 8.42516766083645e-6
allele num: 118692
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440516
  ensembl transcript: ENST00000544267
  gene symbol: ELP2
  hgvsc: ENST00000544267.1:c.-53C>T
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000350967
  ensembl transcript: ENST00000358232
  gene symbol: ELP2
  hgvsc: ENST00000358232.6:c.-53C>T
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+384C>T
  variant of: http://identifiers.org/hgnc/18248
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 522
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40966
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 5.75e1
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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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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
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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
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1023
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genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

18-33709846-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709846
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709846
    reference: chr 18
allele count: 13
allele frequency: 1.090604026845638e-4
allele num: 119200
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440516
  ensembl transcript: ENST00000544267
  gene symbol: ELP2
  hgvsc: ENST00000544267.1:c.-51C>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+386C>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000350967
  ensembl transcript: ENST00000358232
  gene symbol: ELP2
  hgvsc: ENST00000358232.6:c.-51C>G
  variant of: http://identifiers.org/hgnc/18248
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3914
  bin: 3.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 299
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2793
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genotype quality: GenotypeQuality
  all individuals: 39155
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

18-33709858-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709858
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709857
    reference: chr 18
allele count: 1
allele frequency: 8.292699107705576e-6
allele num: 120588
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000438533
  ensembl transcript: ENST00000545632
  gene symbol: ELP2
  hgvsc: ENST00000545632.1:c.-38delT
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440516
  ensembl transcript: ENST00000544267
  gene symbol: ELP2
  hgvsc: ENST00000544267.1:c.-38delT
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000257191
  ensembl transcript: ENST00000351393
  gene symbol: ELP2
  hgvsc: ENST00000351393.6:c.-38delT
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000541190
  gene symbol: ELP2
  hgvsc: ENST00000541190.1:n.3delT
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+399delT
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000350967
  ensembl transcript: ENST00000358232
  gene symbol: ELP2
  hgvsc: ENST00000358232.6:c.-38delT
  variant of: http://identifiers.org/hgnc/18248
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39772
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2935
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: GT
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

18-33709865-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709865
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709865
    reference: chr 18
allele count: 1
allele frequency: 8.272256506129742e-6
allele num: 120886
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000391202
  ensembl transcript: ENST00000423854
  gene symbol: ELP2
  hgvsc: ENST00000423854.2:c.-32T>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+405T>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440516
  ensembl transcript: ENST00000544267
  gene symbol: ELP2
  hgvsc: ENST00000544267.1:c.-32T>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000257191
  ensembl transcript: ENST00000351393
  gene symbol: ELP2
  hgvsc: ENST00000351393.6:c.-32T>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000438533
  ensembl transcript: ENST00000545632
  gene symbol: ELP2
  hgvsc: ENST00000545632.1:c.-32T>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000414851
  ensembl transcript: ENST00000442325
  gene symbol: ELP2
  hgvsc: ENST00000442325.2:c.-32T>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443555
  ensembl transcript: ENST00000539560
  gene symbol: ELP2
  hgvsc: ENST00000539560.1:c.-32T>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000535488
  gene symbol: ELP2
  hgvsc: ENST00000535488.1:n.1T>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000541190
  gene symbol: ELP2
  hgvsc: ENST00000541190.1:n.9T>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000350967
  ensembl transcript: ENST00000358232
  gene symbol: ELP2
  hgvsc: ENST00000358232.6:c.-32T>A
  variant of: http://identifiers.org/hgnc/18248
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

18-33709866-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709866
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709866
    reference: chr 18
allele count: 1
allele frequency: 8.269109913008963e-6
allele num: 120932
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000257191
  ensembl transcript: ENST00000351393
  gene symbol: ELP2
  hgvsc: ENST00000351393.6:c.-31C>T
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000541190
  gene symbol: ELP2
  hgvsc: ENST00000541190.1:n.10C>T
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443555
  ensembl transcript: ENST00000539560
  gene symbol: ELP2
  hgvsc: ENST00000539560.1:c.-31C>T
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000350967
  ensembl transcript: ENST00000358232
  gene symbol: ELP2
  hgvsc: ENST00000358232.6:c.-31C>T
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+406C>T
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000391202
  ensembl transcript: ENST00000423854
  gene symbol: ELP2
  hgvsc: ENST00000423854.2:c.-31C>T
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000540135
  gene symbol: ELP2
  hgvsc: ENST00000540135.1:n.1C>T
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000535488
  gene symbol: ELP2
  hgvsc: ENST00000535488.1:n.2C>T
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440516
  ensembl transcript: ENST00000544267
  gene symbol: ELP2
  hgvsc: ENST00000544267.1:c.-31C>T
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000438533
  ensembl transcript: ENST00000545632
  gene symbol: ELP2
  hgvsc: ENST00000545632.1:c.-31C>T
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000414851
  ensembl transcript: ENST00000442325
  gene symbol: ELP2
  hgvsc: ENST00000442325.2:c.-31C>T
  variant of: http://identifiers.org/hgnc/18248
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9924
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7038
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS

18-33709868-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709868
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709868
    reference: chr 18
allele count: 3
allele frequency: 2.480076717039781e-5
allele num: 120964
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440516
  ensembl transcript: ENST00000544267
  gene symbol: ELP2
  hgvsc: ENST00000544267.1:c.-29C>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000438533
  ensembl transcript: ENST00000545632
  gene symbol: ELP2
  hgvsc: ENST00000545632.1:c.-29C>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000391202
  ensembl transcript: ENST00000423854
  gene symbol: ELP2
  hgvsc: ENST00000423854.2:c.-29C>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000350967
  ensembl transcript: ENST00000358232
  gene symbol: ELP2
  hgvsc: ENST00000358232.6:c.-29C>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000540135
  gene symbol: ELP2
  hgvsc: ENST00000540135.1:n.3C>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443555
  ensembl transcript: ENST00000539560
  gene symbol: ELP2
  hgvsc: ENST00000539560.1:c.-29C>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+408C>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000257191
  ensembl transcript: ENST00000351393
  gene symbol: ELP2
  hgvsc: ENST00000351393.6:c.-29C>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000414851
  ensembl transcript: ENST00000442325
  gene symbol: ELP2
  hgvsc: ENST00000442325.2:c.-29C>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000541190
  gene symbol: ELP2
  hgvsc: ENST00000541190.1:n.12C>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000535488
  gene symbol: ELP2
  hgvsc: ENST00000535488.1:n.4C>G
  variant of: http://identifiers.org/hgnc/18248
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41405
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

18-33709869-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709869
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709869
    reference: chr 18
allele count: 2
allele frequency: 1.65305650147122e-5
allele num: 120988
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443555
  ensembl transcript: ENST00000539560
  gene symbol: ELP2
  hgvsc: ENST00000539560.1:c.-28T>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000438533
  ensembl transcript: ENST00000545632
  gene symbol: ELP2
  hgvsc: ENST00000545632.1:c.-28T>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440516
  ensembl transcript: ENST00000544267
  gene symbol: ELP2
  hgvsc: ENST00000544267.1:c.-28T>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000414851
  ensembl transcript: ENST00000442325
  gene symbol: ELP2
  hgvsc: ENST00000442325.2:c.-28T>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000540135
  gene symbol: ELP2
  hgvsc: ENST00000540135.1:n.4T>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000257191
  ensembl transcript: ENST00000351393
  gene symbol: ELP2
  hgvsc: ENST00000351393.6:c.-28T>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000535488
  gene symbol: ELP2
  hgvsc: ENST00000535488.1:n.5T>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000350967
  ensembl transcript: ENST00000358232
  gene symbol: ELP2
  hgvsc: ENST00000358232.6:c.-28T>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000541190
  gene symbol: ELP2
  hgvsc: ENST00000541190.1:n.13T>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000391202
  ensembl transcript: ENST00000423854
  gene symbol: ELP2
  hgvsc: ENST00000423854.2:c.-28T>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+409T>C
  variant of: http://identifiers.org/hgnc/18248
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41409
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9948
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

18-33709875-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709875
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709875
    reference: chr 18
allele count: 224
allele frequency: 1.849985959927983e-3
allele num: 121082
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440516
  ensembl transcript: ENST00000544267
  gene symbol: ELP2
  hgvsc: ENST00000544267.1:c.-22G>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000540135
  gene symbol: ELP2
  hgvsc: ENST00000540135.1:n.10G>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000391202
  ensembl transcript: ENST00000423854
  gene symbol: ELP2
  hgvsc: ENST00000423854.2:c.-22G>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000414851
  ensembl transcript: ENST00000442325
  gene symbol: ELP2
  hgvsc: ENST00000442325.2:c.-22G>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000535488
  gene symbol: ELP2
  hgvsc: ENST00000535488.1:n.11G>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+415G>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443555
  ensembl transcript: ENST00000539560
  gene symbol: ELP2
  hgvsc: ENST00000539560.1:c.-22G>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000257191
  ensembl transcript: ENST00000351393
  gene symbol: ELP2
  hgvsc: ENST00000351393.6:c.-22G>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000438533
  ensembl transcript: ENST00000545632
  gene symbol: ELP2
  hgvsc: ENST00000545632.1:c.-22G>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000350967
  ensembl transcript: ENST00000358232
  gene symbol: ELP2
  hgvsc: ENST00000358232.6:c.-22G>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000541190
  gene symbol: ELP2
  hgvsc: ENST00000541190.1:n.19G>C
  variant of: http://identifiers.org/hgnc/18248
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 4.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 41296
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 9935
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 3.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 2960
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 4
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum

18-33709877-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709877
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709877
    reference: chr 18
allele count: 1
allele frequency: 8.257774694875225e-6
allele num: 121098
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000541190
  gene symbol: ELP2
  hgvsc: ENST00000541190.1:n.21G>T
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000350967
  ensembl transcript: ENST00000358232
  gene symbol: ELP2
  hgvsc: ENST00000358232.6:c.-20G>T
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+417G>T
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000535488
  gene symbol: ELP2
  hgvsc: ENST00000535488.1:n.13G>T
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440516
  ensembl transcript: ENST00000544267
  gene symbol: ELP2
  hgvsc: ENST00000544267.1:c.-20G>T
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000540135
  gene symbol: ELP2
  hgvsc: ENST00000540135.1:n.12G>T
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443555
  ensembl transcript: ENST00000539560
  gene symbol: ELP2
  hgvsc: ENST00000539560.1:c.-20G>T
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000391202
  ensembl transcript: ENST00000423854
  gene symbol: ELP2
  hgvsc: ENST00000423854.2:c.-20G>T
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000438533
  ensembl transcript: ENST00000545632
  gene symbol: ELP2
  hgvsc: ENST00000545632.1:c.-20G>T
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000414851
  ensembl transcript: ENST00000442325
  gene symbol: ELP2
  hgvsc: ENST00000442325.2:c.-20G>T
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000257191
  ensembl transcript: ENST00000351393
  gene symbol: ELP2
  hgvsc: ENST00000351393.6:c.-20G>T
  variant of: http://identifiers.org/hgnc/18248
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39817
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

18-33709883-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709883
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709883
    reference: chr 18
allele count: 6
allele frequency: 4.952701698776683e-5
allele num: 121146
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443555
  ensembl transcript: ENST00000539560
  gene symbol: ELP2
  hgvsc: ENST00000539560.1:c.-14G>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000535488
  gene symbol: ELP2
  hgvsc: ENST00000535488.1:n.19G>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000391202
  ensembl transcript: ENST00000423854
  gene symbol: ELP2
  hgvsc: ENST00000423854.2:c.-14G>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000540135
  gene symbol: ELP2
  hgvsc: ENST00000540135.1:n.18G>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440516
  ensembl transcript: ENST00000544267
  gene symbol: ELP2
  hgvsc: ENST00000544267.1:c.-14G>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440774
  ensembl transcript: ENST00000542430
  gene symbol: ELP2
  hgvsc: ENST00000542430.1:c.-14G>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000541190
  gene symbol: ELP2
  hgvsc: ENST00000541190.1:n.27G>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000350967
  ensembl transcript: ENST00000358232
  gene symbol: ELP2
  hgvsc: ENST00000358232.6:c.-14G>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000438533
  ensembl transcript: ENST00000545632
  gene symbol: ELP2
  hgvsc: ENST00000545632.1:c.-14G>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000257191
  ensembl transcript: ENST00000351393
  gene symbol: ELP2
  hgvsc: ENST00000351393.6:c.-14G>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000316051
  ensembl transcript: ENST00000350494
  gene symbol: ELP2
  hgvsc: ENST00000350494.6:c.-14G>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+423G>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000414851
  ensembl transcript: ENST00000442325
  gene symbol: ELP2
  hgvsc: ENST00000442325.2:c.-14G>A
  variant of: http://identifiers.org/hgnc/18248
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41165
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10038
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP

18-33709884-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709884
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709884
    reference: chr 18
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+424A>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000257191
  ensembl transcript: ENST00000351393
  gene symbol: ELP2
  hgvsc: ENST00000351393.6:c.-13A>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000535488
  gene symbol: ELP2
  hgvsc: ENST00000535488.1:n.20A>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000350967
  ensembl transcript: ENST00000358232
  gene symbol: ELP2
  hgvsc: ENST00000358232.6:c.-13A>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000391202
  ensembl transcript: ENST00000423854
  gene symbol: ELP2
  hgvsc: ENST00000423854.2:c.-13A>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000316051
  ensembl transcript: ENST00000350494
  gene symbol: ELP2
  hgvsc: ENST00000350494.6:c.-13A>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000541190
  gene symbol: ELP2
  hgvsc: ENST00000541190.1:n.28A>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000540135
  gene symbol: ELP2
  hgvsc: ENST00000540135.1:n.19A>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000414851
  ensembl transcript: ENST00000442325
  gene symbol: ELP2
  hgvsc: ENST00000442325.2:c.-13A>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000438533
  ensembl transcript: ENST00000545632
  gene symbol: ELP2
  hgvsc: ENST00000545632.1:c.-13A>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443555
  ensembl transcript: ENST00000539560
  gene symbol: ELP2
  hgvsc: ENST00000539560.1:c.-13A>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440774
  ensembl transcript: ENST00000542430
  gene symbol: ELP2
  hgvsc: ENST00000542430.1:c.-13A>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440516
  ensembl transcript: ENST00000544267
  gene symbol: ELP2
  hgvsc: ENST00000544267.1:c.-13A>G
  variant of: http://identifiers.org/hgnc/18248
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10043
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

18-33709889-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709889
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709889
    reference: chr 18
allele count: 1
allele frequency: 8.25218682950982e-6
allele num: 121180
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000414851
  ensembl transcript: ENST00000442325
  gene symbol: ELP2
  hgvsc: ENST00000442325.2:c.-8T>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000438533
  ensembl transcript: ENST00000545632
  gene symbol: ELP2
  hgvsc: ENST00000545632.1:c.-8T>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000541190
  gene symbol: ELP2
  hgvsc: ENST00000541190.1:n.33T>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443800
  ensembl transcript: ENST00000542824
  gene symbol: ELP2
  hgvsc: ENST00000542824.1:c.-8T>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443555
  ensembl transcript: ENST00000539560
  gene symbol: ELP2
  hgvsc: ENST00000539560.1:c.-8T>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000257191
  ensembl transcript: ENST00000351393
  gene symbol: ELP2
  hgvsc: ENST00000351393.6:c.-8T>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000316051
  ensembl transcript: ENST00000350494
  gene symbol: ELP2
  hgvsc: ENST00000350494.6:c.-8T>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000350967
  ensembl transcript: ENST00000358232
  gene symbol: ELP2
  hgvsc: ENST00000358232.6:c.-8T>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+429T>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000468091
  ensembl transcript: ENST00000540799
  gene symbol: ELP2
  hgvsc: ENST00000540799.1:c.-8T>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000391202
  ensembl transcript: ENST00000423854
  gene symbol: ELP2
  hgvsc: ENST00000423854.2:c.-8T>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440516
  ensembl transcript: ENST00000544267
  gene symbol: ELP2
  hgvsc: ENST00000544267.1:c.-8T>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440774
  ensembl transcript: ENST00000542430
  gene symbol: ELP2
  hgvsc: ENST00000542430.1:c.-8T>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000535488
  gene symbol: ELP2
  hgvsc: ENST00000535488.1:n.25T>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000540135
  gene symbol: ELP2
  hgvsc: ENST00000540135.1:n.24T>C
  variant of: http://identifiers.org/hgnc/18248
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

18-33709890-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709890
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709890
    reference: chr 18
allele count: 2
allele frequency: 1.650328415354656e-5
allele num: 121188
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443800
  ensembl transcript: ENST00000542824
  gene symbol: ELP2
  hgvsc: ENST00000542824.1:c.-7T>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000391202
  ensembl transcript: ENST00000423854
  gene symbol: ELP2
  hgvsc: ENST00000423854.2:c.-7T>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+430T>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000541190
  gene symbol: ELP2
  hgvsc: ENST00000541190.1:n.34T>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000438533
  ensembl transcript: ENST00000545632
  gene symbol: ELP2
  hgvsc: ENST00000545632.1:c.-7T>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443555
  ensembl transcript: ENST00000539560
  gene symbol: ELP2
  hgvsc: ENST00000539560.1:c.-7T>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000535488
  gene symbol: ELP2
  hgvsc: ENST00000535488.1:n.26T>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000414851
  ensembl transcript: ENST00000442325
  gene symbol: ELP2
  hgvsc: ENST00000442325.2:c.-7T>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000316051
  ensembl transcript: ENST00000350494
  gene symbol: ELP2
  hgvsc: ENST00000350494.6:c.-7T>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000468091
  ensembl transcript: ENST00000540799
  gene symbol: ELP2
  hgvsc: ENST00000540799.1:c.-7T>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440516
  ensembl transcript: ENST00000544267
  gene symbol: ELP2
  hgvsc: ENST00000544267.1:c.-7T>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440774
  ensembl transcript: ENST00000542430
  gene symbol: ELP2
  hgvsc: ENST00000542430.1:c.-7T>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000257191
  ensembl transcript: ENST00000351393
  gene symbol: ELP2
  hgvsc: ENST00000351393.6:c.-7T>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000350967
  ensembl transcript: ENST00000358232
  gene symbol: ELP2
  hgvsc: ENST00000358232.6:c.-7T>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000540135
  gene symbol: ELP2
  hgvsc: ENST00000540135.1:n.25T>G
  variant of: http://identifiers.org/hgnc/18248
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

18-33709890-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709890
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709890
    reference: chr 18
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440516
  ensembl transcript: ENST00000544267
  gene symbol: ELP2
  hgvsc: ENST00000544267.1:c.-7T>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000391202
  ensembl transcript: ENST00000423854
  gene symbol: ELP2
  hgvsc: ENST00000423854.2:c.-7T>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440774
  ensembl transcript: ENST00000542430
  gene symbol: ELP2
  hgvsc: ENST00000542430.1:c.-7T>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000438533
  ensembl transcript: ENST00000545632
  gene symbol: ELP2
  hgvsc: ENST00000545632.1:c.-7T>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000468091
  ensembl transcript: ENST00000540799
  gene symbol: ELP2
  hgvsc: ENST00000540799.1:c.-7T>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000414851
  ensembl transcript: ENST00000442325
  gene symbol: ELP2
  hgvsc: ENST00000442325.2:c.-7T>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443555
  ensembl transcript: ENST00000539560
  gene symbol: ELP2
  hgvsc: ENST00000539560.1:c.-7T>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000541190
  gene symbol: ELP2
  hgvsc: ENST00000541190.1:n.34T>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000257191
  ensembl transcript: ENST00000351393
  gene symbol: ELP2
  hgvsc: ENST00000351393.6:c.-7T>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000535488
  gene symbol: ELP2
  hgvsc: ENST00000535488.1:n.26T>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000350967
  ensembl transcript: ENST00000358232
  gene symbol: ELP2
  hgvsc: ENST00000358232.6:c.-7T>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000540135
  gene symbol: ELP2
  hgvsc: ENST00000540135.1:n.25T>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000316051
  ensembl transcript: ENST00000350494
  gene symbol: ELP2
  hgvsc: ENST00000350494.6:c.-7T>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+430T>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443800
  ensembl transcript: ENST00000542824
  gene symbol: ELP2
  hgvsc: ENST00000542824.1:c.-7T>A
  variant of: http://identifiers.org/hgnc/18248
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

18-33709895-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709895
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709895
    reference: chr 18
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000468091
  ensembl transcript: ENST00000540799
  gene symbol: ELP2
  hgvsc: ENST00000540799.1:c.-2A>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000438533
  ensembl transcript: ENST00000545632
  gene symbol: ELP2
  hgvsc: ENST00000545632.1:c.-2A>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000541190
  gene symbol: ELP2
  hgvsc: ENST00000541190.1:n.39A>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440516
  ensembl transcript: ENST00000544267
  gene symbol: ELP2
  hgvsc: ENST00000544267.1:c.-2A>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000350967
  ensembl transcript: ENST00000358232
  gene symbol: ELP2
  hgvsc: ENST00000358232.6:c.-2A>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443800
  ensembl transcript: ENST00000542824
  gene symbol: ELP2
  hgvsc: ENST00000542824.1:c.-2A>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000414851
  ensembl transcript: ENST00000442325
  gene symbol: ELP2
  hgvsc: ENST00000442325.2:c.-2A>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443555
  ensembl transcript: ENST00000539560
  gene symbol: ELP2
  hgvsc: ENST00000539560.1:c.-2A>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440774
  ensembl transcript: ENST00000542430
  gene symbol: ELP2
  hgvsc: ENST00000542430.1:c.-2A>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000257191
  ensembl transcript: ENST00000351393
  gene symbol: ELP2
  hgvsc: ENST00000351393.6:c.-2A>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000316051
  ensembl transcript: ENST00000350494
  gene symbol: ELP2
  hgvsc: ENST00000350494.6:c.-2A>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000391202
  ensembl transcript: ENST00000423854
  gene symbol: ELP2
  hgvsc: ENST00000423854.2:c.-2A>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000540135
  gene symbol: ELP2
  hgvsc: ENST00000540135.1:n.30A>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+435A>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000535488
  gene symbol: ELP2
  hgvsc: ENST00000535488.1:n.31A>G
  variant of: http://identifiers.org/hgnc/18248
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/18-33709896-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709896
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709896
    reference: chr 18
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000316051
  ensembl transcript: ENST00000350494
  gene symbol: ELP2
  hgvsc: ENST00000350494.6:c.-1C>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443555
  ensembl transcript: ENST00000539560
  gene symbol: ELP2
  hgvsc: ENST00000539560.1:c.-1C>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000541190
  gene symbol: ELP2
  hgvsc: ENST00000541190.1:n.40C>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000350967
  ensembl transcript: ENST00000358232
  gene symbol: ELP2
  hgvsc: ENST00000358232.6:c.-1C>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000438533
  ensembl transcript: ENST00000545632
  gene symbol: ELP2
  hgvsc: ENST00000545632.1:c.-1C>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000391202
  ensembl transcript: ENST00000423854
  gene symbol: ELP2
  hgvsc: ENST00000423854.2:c.-1C>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440516
  ensembl transcript: ENST00000544267
  gene symbol: ELP2
  hgvsc: ENST00000544267.1:c.-1C>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440774
  ensembl transcript: ENST00000542430
  gene symbol: ELP2
  hgvsc: ENST00000542430.1:c.-1C>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000257191
  ensembl transcript: ENST00000351393
  gene symbol: ELP2
  hgvsc: ENST00000351393.6:c.-1C>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000540135
  gene symbol: ELP2
  hgvsc: ENST00000540135.1:n.31C>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000468091
  ensembl transcript: ENST00000540799
  gene symbol: ELP2
  hgvsc: ENST00000540799.1:c.-1C>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+436C>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000414851
  ensembl transcript: ENST00000442325
  gene symbol: ELP2
  hgvsc: ENST00000442325.2:c.-1C>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000535488
  gene symbol: ELP2
  hgvsc: ENST00000535488.1:n.32C>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443800
  ensembl transcript: ENST00000542824
  gene symbol: ELP2
  hgvsc: ENST00000542824.1:c.-1C>A
  variant of: http://identifiers.org/hgnc/18248
canonical: true
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/18-33709897-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709897
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709897
    reference: chr 18
allele count: 2
allele frequency: 1.649919978881024e-5
allele num: 121218
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000535488
  gene symbol: ELP2
  hgvsc: ENST00000535488.1:n.33A>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000257191
  ensembl transcript: ENST00000351393
  gene symbol: ELP2
  hgvsc: ENST00000351393.6:c.1A>C
  hgvsp: ENSP00000257191.7:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000438533
  ensembl transcript: ENST00000545632
  gene symbol: ELP2
  hgvsc: ENST00000545632.1:c.1A>C
  hgvsp: ENSP00000438533.1:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443800
  ensembl transcript: ENST00000542824
  gene symbol: ELP2
  hgvsc: ENST00000542824.1:c.1A>C
  hgvsp: ENSP00000443800.1:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000541190
  gene symbol: ELP2
  hgvsc: ENST00000541190.1:n.41A>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440516
  ensembl transcript: ENST00000544267
  gene symbol: ELP2
  hgvsc: ENST00000544267.1:c.1A>C
  hgvsp: ENSP00000440516.1:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440774
  ensembl transcript: ENST00000542430
  gene symbol: ELP2
  hgvsc: ENST00000542430.1:c.1A>C
  hgvsp: ENSP00000440774.1:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000316051
  ensembl transcript: ENST00000350494
  gene symbol: ELP2
  hgvsc: ENST00000350494.6:c.1A>C
  hgvsp: ENSP00000316051.6:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000391202
  ensembl transcript: ENST00000423854
  gene symbol: ELP2
  hgvsc: ENST00000423854.2:c.1A>C
  hgvsp: ENSP00000391202.2:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000468091
  ensembl transcript: ENST00000540799
  gene symbol: ELP2
  hgvsc: ENST00000540799.1:c.1A>C
  hgvsp: ENSP00000468091.1:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000350967
  ensembl transcript: ENST00000358232
  gene symbol: ELP2
  hgvsc: ENST00000358232.6:c.1A>C
  hgvsp: ENSP00000350967.6:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+437A>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000414851
  ensembl transcript: ENST00000442325
  gene symbol: ELP2
  hgvsc: ENST00000442325.2:c.1A>C
  hgvsp: ENSP00000414851.2:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443555
  ensembl transcript: ENST00000539560
  gene symbol: ELP2
  hgvsc: ENST00000539560.1:c.1A>C
  hgvsp: ENSP00000443555.1:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000540135
  gene symbol: ELP2
  hgvsc: ENST00000540135.1:n.32A>C
  variant of: http://identifiers.org/hgnc/18248
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: A
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

18-33709897-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709897
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709897
    reference: chr 18
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000438533
  ensembl transcript: ENST00000545632
  gene symbol: ELP2
  hgvsc: ENST00000545632.1:c.1A>G
  hgvsp: ENSP00000438533.1:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000350967
  ensembl transcript: ENST00000358232
  gene symbol: ELP2
  hgvsc: ENST00000358232.6:c.1A>G
  hgvsp: ENSP00000350967.6:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440774
  ensembl transcript: ENST00000542430
  gene symbol: ELP2
  hgvsc: ENST00000542430.1:c.1A>G
  hgvsp: ENSP00000440774.1:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000257191
  ensembl transcript: ENST00000351393
  gene symbol: ELP2
  hgvsc: ENST00000351393.6:c.1A>G
  hgvsp: ENSP00000257191.7:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000535488
  gene symbol: ELP2
  hgvsc: ENST00000535488.1:n.33A>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440516
  ensembl transcript: ENST00000544267
  gene symbol: ELP2
  hgvsc: ENST00000544267.1:c.1A>G
  hgvsp: ENSP00000440516.1:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000414851
  ensembl transcript: ENST00000442325
  gene symbol: ELP2
  hgvsc: ENST00000442325.2:c.1A>G
  hgvsp: ENSP00000414851.2:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443800
  ensembl transcript: ENST00000542824
  gene symbol: ELP2
  hgvsc: ENST00000542824.1:c.1A>G
  hgvsp: ENSP00000443800.1:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443555
  ensembl transcript: ENST00000539560
  gene symbol: ELP2
  hgvsc: ENST00000539560.1:c.1A>G
  hgvsp: ENSP00000443555.1:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+437A>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000391202
  ensembl transcript: ENST00000423854
  gene symbol: ELP2
  hgvsc: ENST00000423854.2:c.1A>G
  hgvsp: ENSP00000391202.2:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000541190
  gene symbol: ELP2
  hgvsc: ENST00000541190.1:n.41A>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000468091
  ensembl transcript: ENST00000540799
  gene symbol: ELP2
  hgvsc: ENST00000540799.1:c.1A>G
  hgvsp: ENSP00000468091.1:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000540135
  gene symbol: ELP2
  hgvsc: ENST00000540135.1:n.32A>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000316051
  ensembl transcript: ENST00000350494
  gene symbol: ELP2
  hgvsc: ENST00000350494.6:c.1A>G
  hgvsp: ENSP00000316051.6:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

18-33709898-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709898
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709898
    reference: chr 18
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000350967
  ensembl transcript: ENST00000358232
  gene symbol: ELP2
  hgvsc: ENST00000358232.6:c.2T>C
  hgvsp: ENSP00000350967.6:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000414851
  ensembl transcript: ENST00000442325
  gene symbol: ELP2
  hgvsc: ENST00000442325.2:c.2T>C
  hgvsp: ENSP00000414851.2:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000438533
  ensembl transcript: ENST00000545632
  gene symbol: ELP2
  hgvsc: ENST00000545632.1:c.2T>C
  hgvsp: ENSP00000438533.1:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+438T>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000535488
  gene symbol: ELP2
  hgvsc: ENST00000535488.1:n.34T>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443555
  ensembl transcript: ENST00000539560
  gene symbol: ELP2
  hgvsc: ENST00000539560.1:c.2T>C
  hgvsp: ENSP00000443555.1:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000257191
  ensembl transcript: ENST00000351393
  gene symbol: ELP2
  hgvsc: ENST00000351393.6:c.2T>C
  hgvsp: ENSP00000257191.7:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000391202
  ensembl transcript: ENST00000423854
  gene symbol: ELP2
  hgvsc: ENST00000423854.2:c.2T>C
  hgvsp: ENSP00000391202.2:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000541190
  gene symbol: ELP2
  hgvsc: ENST00000541190.1:n.42T>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440774
  ensembl transcript: ENST00000542430
  gene symbol: ELP2
  hgvsc: ENST00000542430.1:c.2T>C
  hgvsp: ENSP00000440774.1:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000316051
  ensembl transcript: ENST00000350494
  gene symbol: ELP2
  hgvsc: ENST00000350494.6:c.2T>C
  hgvsp: ENSP00000316051.6:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000468091
  ensembl transcript: ENST00000540799
  gene symbol: ELP2
  hgvsc: ENST00000540799.1:c.2T>C
  hgvsp: ENSP00000468091.1:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443800
  ensembl transcript: ENST00000542824
  gene symbol: ELP2
  hgvsc: ENST00000542824.1:c.2T>C
  hgvsp: ENSP00000443800.1:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000540135
  gene symbol: ELP2
  hgvsc: ENST00000540135.1:n.33T>C
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440516
  ensembl transcript: ENST00000544267
  gene symbol: ELP2
  hgvsc: ENST00000544267.1:c.2T>C
  hgvsp: ENSP00000440516.1:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4376
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP

18-33709898-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709898
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709898
    reference: chr 18
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000468091
  ensembl transcript: ENST00000540799
  gene symbol: ELP2
  hgvsc: ENST00000540799.1:c.2T>G
  hgvsp: ENSP00000468091.1:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443555
  ensembl transcript: ENST00000539560
  gene symbol: ELP2
  hgvsc: ENST00000539560.1:c.2T>G
  hgvsp: ENSP00000443555.1:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000257191
  ensembl transcript: ENST00000351393
  gene symbol: ELP2
  hgvsc: ENST00000351393.6:c.2T>G
  hgvsp: ENSP00000257191.7:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000535488
  gene symbol: ELP2
  hgvsc: ENST00000535488.1:n.34T>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440774
  ensembl transcript: ENST00000542430
  gene symbol: ELP2
  hgvsc: ENST00000542430.1:c.2T>G
  hgvsp: ENSP00000440774.1:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000541190
  gene symbol: ELP2
  hgvsc: ENST00000541190.1:n.42T>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443800
  ensembl transcript: ENST00000542824
  gene symbol: ELP2
  hgvsc: ENST00000542824.1:c.2T>G
  hgvsp: ENSP00000443800.1:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000391202
  ensembl transcript: ENST00000423854
  gene symbol: ELP2
  hgvsc: ENST00000423854.2:c.2T>G
  hgvsp: ENSP00000391202.2:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000540135
  gene symbol: ELP2
  hgvsc: ENST00000540135.1:n.33T>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000316051
  ensembl transcript: ENST00000350494
  gene symbol: ELP2
  hgvsc: ENST00000350494.6:c.2T>G
  hgvsp: ENSP00000316051.6:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440516
  ensembl transcript: ENST00000544267
  gene symbol: ELP2
  hgvsc: ENST00000544267.1:c.2T>G
  hgvsp: ENSP00000440516.1:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000350967
  ensembl transcript: ENST00000358232
  gene symbol: ELP2
  hgvsc: ENST00000358232.6:c.2T>G
  hgvsp: ENSP00000350967.6:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000438533
  ensembl transcript: ENST00000545632
  gene symbol: ELP2
  hgvsc: ENST00000545632.1:c.2T>G
  hgvsp: ENSP00000438533.1:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000414851
  ensembl transcript: ENST00000442325
  gene symbol: ELP2
  hgvsc: ENST00000442325.2:c.2T>G
  hgvsp: ENSP00000414851.2:p.Met1?
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+438T>G
  variant of: http://identifiers.org/hgnc/18248
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD

18-33709903-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709903
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709903
    reference: chr 18
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440774
  ensembl transcript: ENST00000542430
  gene symbol: ELP2
  hgvsc: ENST00000542430.1:c.7G>A
  hgvsp: ENSP00000440774.1:p.Ala3Thr
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+443G>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000391202
  ensembl transcript: ENST00000423854
  gene symbol: ELP2
  hgvsc: ENST00000423854.2:c.7G>A
  hgvsp: ENSP00000391202.2:p.Ala3Thr
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000414851
  ensembl transcript: ENST00000442325
  gene symbol: ELP2
  hgvsc: ENST00000442325.2:c.7G>A
  hgvsp: ENSP00000414851.2:p.Ala3Thr
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000541190
  gene symbol: ELP2
  hgvsc: ENST00000541190.1:n.47G>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440516
  ensembl transcript: ENST00000544267
  gene symbol: ELP2
  hgvsc: ENST00000544267.1:c.7G>A
  hgvsp: ENSP00000440516.1:p.Ala3Thr
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000438533
  ensembl transcript: ENST00000545632
  gene symbol: ELP2
  hgvsc: ENST00000545632.1:c.7G>A
  hgvsp: ENSP00000438533.1:p.Ala3Thr
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000316051
  ensembl transcript: ENST00000350494
  gene symbol: ELP2
  hgvsc: ENST00000350494.6:c.7G>A
  hgvsp: ENSP00000316051.6:p.Ala3Thr
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000540135
  gene symbol: ELP2
  hgvsc: ENST00000540135.1:n.38G>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000350967
  ensembl transcript: ENST00000358232
  gene symbol: ELP2
  hgvsc: ENST00000358232.6:c.7G>A
  hgvsp: ENSP00000350967.6:p.Ala3Thr
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000468091
  ensembl transcript: ENST00000540799
  gene symbol: ELP2
  hgvsc: ENST00000540799.1:c.7G>A
  hgvsp: ENSP00000468091.1:p.Ala3Thr
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000257191
  ensembl transcript: ENST00000351393
  gene symbol: ELP2
  hgvsc: ENST00000351393.6:c.7G>A
  hgvsp: ENSP00000257191.7:p.Ala3Thr
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443800
  ensembl transcript: ENST00000542824
  gene symbol: ELP2
  hgvsc: ENST00000542824.1:c.7G>A
  hgvsp: ENSP00000443800.1:p.Ala3Thr
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443555
  ensembl transcript: ENST00000539560
  gene symbol: ELP2
  hgvsc: ENST00000539560.1:c.7G>A
  hgvsp: ENSP00000443555.1:p.Ala3Thr
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000535488
  gene symbol: ELP2
  hgvsc: ENST00000535488.1:n.39G>A
  variant of: http://identifiers.org/hgnc/18248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4383
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala3Thr
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

18-33709904-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709904
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709904
    reference: chr 18
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+444C>T
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440774
  ensembl transcript: ENST00000542430
  gene symbol: ELP2
  hgvsc: ENST00000542430.1:c.8C>T
  hgvsp: ENSP00000440774.1:p.Ala3Val
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443555
  ensembl transcript: ENST00000539560
  gene symbol: ELP2
  hgvsc: ENST00000539560.1:c.8C>T
  hgvsp: ENSP00000443555.1:p.Ala3Val
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000257191
  ensembl transcript: ENST00000351393
  gene symbol: ELP2
  hgvsc: ENST00000351393.6:c.8C>T
  hgvsp: ENSP00000257191.7:p.Ala3Val
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000468091
  ensembl transcript: ENST00000540799
  gene symbol: ELP2
  hgvsc: ENST00000540799.1:c.8C>T
  hgvsp: ENSP00000468091.1:p.Ala3Val
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000350967
  ensembl transcript: ENST00000358232
  gene symbol: ELP2
  hgvsc: ENST00000358232.6:c.8C>T
  hgvsp: ENSP00000350967.6:p.Ala3Val
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440516
  ensembl transcript: ENST00000544267
  gene symbol: ELP2
  hgvsc: ENST00000544267.1:c.8C>T
  hgvsp: ENSP00000440516.1:p.Ala3Val
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000391202
  ensembl transcript: ENST00000423854
  gene symbol: ELP2
  hgvsc: ENST00000423854.2:c.8C>T
  hgvsp: ENSP00000391202.2:p.Ala3Val
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000535488
  gene symbol: ELP2
  hgvsc: ENST00000535488.1:n.40C>T
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000316051
  ensembl transcript: ENST00000350494
  gene symbol: ELP2
  hgvsc: ENST00000350494.6:c.8C>T
  hgvsp: ENSP00000316051.6:p.Ala3Val
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000438533
  ensembl transcript: ENST00000545632
  gene symbol: ELP2
  hgvsc: ENST00000545632.1:c.8C>T
  hgvsp: ENSP00000438533.1:p.Ala3Val
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443800
  ensembl transcript: ENST00000542824
  gene symbol: ELP2
  hgvsc: ENST00000542824.1:c.8C>T
  hgvsp: ENSP00000443800.1:p.Ala3Val
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000541190
  gene symbol: ELP2
  hgvsc: ENST00000541190.1:n.48C>T
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000540135
  gene symbol: ELP2
  hgvsc: ENST00000540135.1:n.39C>T
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000414851
  ensembl transcript: ENST00000442325
  gene symbol: ELP2
  hgvsc: ENST00000442325.2:c.8C>T
  hgvsp: ENSP00000414851.2:p.Ala3Val
  variant of: http://identifiers.org/hgnc/18248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala3Val
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

18-33709906-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709906
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709906
    reference: chr 18
allele count: 3
allele frequency: 2.474512521033356e-5
allele num: 121236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000541190
  gene symbol: ELP2
  hgvsc: ENST00000541190.1:n.50C>T
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440774
  ensembl transcript: ENST00000542430
  gene symbol: ELP2
  hgvsc: ENST00000542430.1:c.10C>T
  hgvsp: ENSP00000440774.1:p.Pro4Ser
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000468091
  ensembl transcript: ENST00000540799
  gene symbol: ELP2
  hgvsc: ENST00000540799.1:c.10C>T
  hgvsp: ENSP00000468091.1:p.Pro4Ser
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000316051
  ensembl transcript: ENST00000350494
  gene symbol: ELP2
  hgvsc: ENST00000350494.6:c.10C>T
  hgvsp: ENSP00000316051.6:p.Pro4Ser
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000391202
  ensembl transcript: ENST00000423854
  gene symbol: ELP2
  hgvsc: ENST00000423854.2:c.10C>T
  hgvsp: ENSP00000391202.2:p.Pro4Ser
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000438533
  ensembl transcript: ENST00000545632
  gene symbol: ELP2
  hgvsc: ENST00000545632.1:c.10C>T
  hgvsp: ENSP00000438533.1:p.Pro4Ser
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000350967
  ensembl transcript: ENST00000358232
  gene symbol: ELP2
  hgvsc: ENST00000358232.6:c.10C>T
  hgvsp: ENSP00000350967.6:p.Pro4Ser
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443555
  ensembl transcript: ENST00000539560
  gene symbol: ELP2
  hgvsc: ENST00000539560.1:c.10C>T
  hgvsp: ENSP00000443555.1:p.Pro4Ser
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000535488
  gene symbol: ELP2
  hgvsc: ENST00000535488.1:n.42C>T
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000257191
  ensembl transcript: ENST00000351393
  gene symbol: ELP2
  hgvsc: ENST00000351393.6:c.10C>T
  hgvsp: ENSP00000257191.7:p.Pro4Ser
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000414851
  ensembl transcript: ENST00000442325
  gene symbol: ELP2
  hgvsc: ENST00000442325.2:c.10C>T
  hgvsp: ENSP00000414851.2:p.Pro4Ser
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+446C>T
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443800
  ensembl transcript: ENST00000542824
  gene symbol: ELP2
  hgvsc: ENST00000542824.1:c.10C>T
  hgvsp: ENSP00000443800.1:p.Pro4Ser
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000540135
  gene symbol: ELP2
  hgvsc: ENST00000540135.1:n.41C>T
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440516
  ensembl transcript: ENST00000544267
  gene symbol: ELP2
  hgvsc: ENST00000544267.1:c.10C>T
  hgvsp: ENSP00000440516.1:p.Pro4Ser
  variant of: http://identifiers.org/hgnc/18248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro4Ser
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/18-33709906-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709906
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709906
    reference: chr 18
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000391202
  ensembl transcript: ENST00000423854
  gene symbol: ELP2
  hgvsc: ENST00000423854.2:c.10C>A
  hgvsp: ENSP00000391202.2:p.Pro4Thr
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000540135
  gene symbol: ELP2
  hgvsc: ENST00000540135.1:n.41C>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440774
  ensembl transcript: ENST00000542430
  gene symbol: ELP2
  hgvsc: ENST00000542430.1:c.10C>A
  hgvsp: ENSP00000440774.1:p.Pro4Thr
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443800
  ensembl transcript: ENST00000542824
  gene symbol: ELP2
  hgvsc: ENST00000542824.1:c.10C>A
  hgvsp: ENSP00000443800.1:p.Pro4Thr
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443555
  ensembl transcript: ENST00000539560
  gene symbol: ELP2
  hgvsc: ENST00000539560.1:c.10C>A
  hgvsp: ENSP00000443555.1:p.Pro4Thr
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000541190
  gene symbol: ELP2
  hgvsc: ENST00000541190.1:n.50C>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000438533
  ensembl transcript: ENST00000545632
  gene symbol: ELP2
  hgvsc: ENST00000545632.1:c.10C>A
  hgvsp: ENSP00000438533.1:p.Pro4Thr
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000316051
  ensembl transcript: ENST00000350494
  gene symbol: ELP2
  hgvsc: ENST00000350494.6:c.10C>A
  hgvsp: ENSP00000316051.6:p.Pro4Thr
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+446C>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000257191
  ensembl transcript: ENST00000351393
  gene symbol: ELP2
  hgvsc: ENST00000351393.6:c.10C>A
  hgvsp: ENSP00000257191.7:p.Pro4Thr
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000414851
  ensembl transcript: ENST00000442325
  gene symbol: ELP2
  hgvsc: ENST00000442325.2:c.10C>A
  hgvsp: ENSP00000414851.2:p.Pro4Thr
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440516
  ensembl transcript: ENST00000544267
  gene symbol: ELP2
  hgvsc: ENST00000544267.1:c.10C>A
  hgvsp: ENSP00000440516.1:p.Pro4Thr
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000535488
  gene symbol: ELP2
  hgvsc: ENST00000535488.1:n.42C>A
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000350967
  ensembl transcript: ENST00000358232
  gene symbol: ELP2
  hgvsc: ENST00000358232.6:c.10C>A
  hgvsp: ENSP00000350967.6:p.Pro4Thr
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000468091
  ensembl transcript: ENST00000540799
  gene symbol: ELP2
  hgvsc: ENST00000540799.1:c.10C>A
  hgvsp: ENSP00000468091.1:p.Pro4Thr
  variant of: http://identifiers.org/hgnc/18248
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro4Thr
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

18-33709908-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 33709908
    reference: chr 18
  end: Position
    type: ExactPosition
    position: 33709908
    reference: chr 18
allele count: 1
allele frequency: 8.247966876165026e-6
allele num: 121242
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000468091
  ensembl transcript: ENST00000540799
  gene symbol: ELP2
  hgvsc: ENST00000540799.1:c.12C>G
  hgvsp: ENST00000540799.1:c.12C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000414851
  ensembl transcript: ENST00000442325
  gene symbol: ELP2
  hgvsc: ENST00000442325.2:c.12C>G
  hgvsp: ENST00000442325.2:c.12C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440516
  ensembl transcript: ENST00000544267
  gene symbol: ELP2
  hgvsc: ENST00000544267.1:c.12C>G
  hgvsp: ENST00000544267.1:c.12C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443555
  ensembl transcript: ENST00000539560
  gene symbol: ELP2
  hgvsc: ENST00000539560.1:c.12C>G
  hgvsp: ENST00000539560.1:c.12C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000316051
  ensembl transcript: ENST00000350494
  gene symbol: ELP2
  hgvsc: ENST00000350494.6:c.12C>G
  hgvsp: ENST00000350494.6:c.12C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000540135
  gene symbol: ELP2
  hgvsc: ENST00000540135.1:n.43C>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000443800
  ensembl transcript: ENST00000542824
  gene symbol: ELP2
  hgvsc: ENST00000542824.1:c.12C>G
  hgvsp: ENST00000542824.1:c.12C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000257191
  ensembl transcript: ENST00000351393
  gene symbol: ELP2
  hgvsc: ENST00000351393.6:c.12C>G
  hgvsp: ENST00000351393.6:c.12C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000535488
  gene symbol: ELP2
  hgvsc: ENST00000535488.1:n.44C>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000391202
  ensembl transcript: ENST00000423854
  gene symbol: ELP2
  hgvsc: ENST00000423854.2:c.12C>G
  hgvsp: ENST00000423854.2:c.12C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000438533
  ensembl transcript: ENST00000545632
  gene symbol: ELP2
  hgvsc: ENST00000545632.1:c.12C>G
  hgvsp: ENST00000545632.1:c.12C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440774
  ensembl transcript: ENST00000542430
  gene symbol: ELP2
  hgvsc: ENST00000542430.1:c.12C>G
  hgvsp: ENST00000542430.1:c.12C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000134759
  ensembl transcript: ENST00000541190
  gene symbol: ELP2
  hgvsc: ENST00000541190.1:n.52C>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000440426
  ensembl transcript: ENST00000543127
  gene symbol: ELP2
  hgvsc: ENST00000543127.1:c.-310+448C>G
  variant of: http://identifiers.org/hgnc/18248
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134759
  ensembl protein: ENSP00000350967
  ensembl transcript: ENST00000358232
  gene symbol: ELP2
  hgvsc: ENST00000358232.6:c.12C>G
  hgvsp: ENST00000358232.6:c.12C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18248
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro4Pro
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 31
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.003544182134919e-5
allele num: 66588
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.917e1

FS
type: SiteQuality
SIO_000300: 2.029e0

DP
type: SiteQuality
SIO_000300: 1.662556e6

MQRankSum
type: SiteQuality
SIO_000300: 4.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

QD
type: SiteQuality
SIO_000300: 1.336e1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e-1

GenotypeQuality
all individuals: 1759
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502765087761481e-5
allele num: 66544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.76e-1

DP
type: SiteQuality
SIO_000300: 1.66158e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.02e-1

FS
type: SiteQuality
SIO_000300: 7.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.94e1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.834e1

VQSLOD
type: SiteQuality
SIO_000300: -1.122e0

GenotypeQuality
all individuals: 2582
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.189e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

DP
type: SiteQuality
SIO_000300: 1.661397e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

FS
type: SiteQuality
SIO_000300: 4.388e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
type: SiteQuality
SIO_000300: 1.285e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

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

African
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allele count: 1
allele frequency: 1.023751023751024e-4
allele num: 9768
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66530
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.38e-2

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.95e-1

FS
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.782e0

DP
type: SiteQuality
SIO_000300: 1.661333e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.1e-2

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66514
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.06134076857801e-5
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
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ClippingRankSum
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MQ
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DP
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FS
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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BaseQRankSum
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VQSLOD
type: SiteQuality
SIO_000300: -3.829e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.243e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

African
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allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.503804625703029e-5
allele num: 66498
num of homozygotes: 0

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
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DP
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SIO_000300: 1.660182e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.024e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

QD
type: SiteQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9762
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66436
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.61e-1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

DP
type: SiteQuality
SIO_000300: 1.658649e6

QD
type: SiteQuality
SIO_000300: 1.037e1

GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9762
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66436
num of homozygotes: 0

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

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

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

Other
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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FS
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ReadPosRankSum
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MQ
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.516711833785005e-5
allele num: 66420
num of homozygotes: 0

ReadPosRankSum
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
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: 8.96e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

African
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allele frequency: 1.024800163968026e-4
allele num: 9758
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66420
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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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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Other
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allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

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

DP
type: SiteQuality
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MQRankSum
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QD
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 4.519569736961041e-5
allele num: 66378
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South Asian
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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Latino
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Other
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East Asian
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allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.81e-1

DP
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.933e1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66376
num of homozygotes: 0

Latino
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allele frequency: 6.915629322268327e-4
allele num: 11568
num of homozygotes: 0

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

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

European (Finnish)
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num of homozygotes: 0

Other
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.508341126429153e-5
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East Asian
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South Asian
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Latino
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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DP
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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QD
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
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num of homozygotes: 0

Other
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European (Non-Finnish)
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African
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South Asian
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European (Finnish)
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allele num: 6614
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

Latino
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num of homozygotes: 0

European (Non-Finnish)
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South Asian
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African
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European (Finnish)
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allele num: 6612
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East Asian
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Other
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DP
type: SiteQuality
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ReadPosRankSum
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MQ
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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QD
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FS
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VQSLOD
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
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Other
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African
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Latino
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East Asian
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European (Finnish)
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South Asian
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InbreedingCoeff
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DP
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MQRankSum
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ReadPosRankSum
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MQ
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QD
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ClippingRankSum
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BaseQRankSum
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FS
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VQSLOD
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Latino
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European (Finnish)
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European (Non-Finnish)
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allele num: 65824
num of homozygotes: 0

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

European (Non-Finnish)
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Other
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Latino
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South Asian
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African
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East Asian
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European (Finnish)
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VQSLOD
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FS
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ReadPosRankSum
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InbreedingCoeff
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QD
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MQ
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BaseQRankSum
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DP
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MQRankSum
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GenotypeQuality
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Latino
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Other
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European (Finnish)
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European (Non-Finnish)
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African
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East Asian
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South Asian
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QD
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ReadPosRankSum
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MQ
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VQSLOD
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DP
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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FS
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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Latino
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South Asian
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Other
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VQSLOD
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MQRankSum
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DP
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InbreedingCoeff
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MQ
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FS
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QD
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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Latino
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European (Finnish)
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South Asian
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European (Non-Finnish)
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African
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East Asian
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Other
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InbreedingCoeff
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DP
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MQRankSum
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FS
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BaseQRankSum
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QD
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MQ
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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Latino
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Other
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African
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South Asian
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European (Non-Finnish)
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European (Finnish)
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East Asian
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QD
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FS
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MQ
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DP
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VQSLOD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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GenotypeQuality
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European (Finnish)
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East Asian
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African
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Other
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European (Non-Finnish)
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Latino
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South Asian
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DP
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VQSLOD
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BaseQRankSum
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FS
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MQRankSum
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ClippingRankSum
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MQ
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QD
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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Latino
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European (Finnish)
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European (Non-Finnish)
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South Asian
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East Asian
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African
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Other
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MQ
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ReadPosRankSum
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ClippingRankSum
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FS
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BaseQRankSum
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DP
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InbreedingCoeff
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MQRankSum
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VQSLOD
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QD
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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African
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East Asian
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Other
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Latino
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European (Finnish)
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InbreedingCoeff
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MQ
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ReadPosRankSum
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MQRankSum
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FS
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VQSLOD
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ClippingRankSum
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DP
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QD
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BaseQRankSum
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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African
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European (Finnish)
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Other
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South Asian
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MQ
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InbreedingCoeff
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BaseQRankSum
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DP
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FS
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ReadPosRankSum
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MQRankSum
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VQSLOD
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ClippingRankSum
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QD
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GenotypeQuality
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European (Finnish)
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East Asian
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European (Non-Finnish)
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South Asian
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African
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Latino
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DP
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQ
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QD
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MQRankSum
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FS
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GenotypeQuality
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South Asian
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African
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Latino
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Other
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European (Finnish)
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European (Non-Finnish)
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East Asian
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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FS
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ReadPosRankSum
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MQRankSum
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QD
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ClippingRankSum
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MQ
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SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.414557e6

GenotypeQuality
all individuals: 777
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8174
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11054
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.23998304006784e-4
allele num: 9434
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62652
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.402374e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

FS
type: SiteQuality
SIO_000300: 6.087e0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 1.517e1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.53e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.77e-1

GenotypeQuality
all individuals: 1303
bin: 4.25e1
variant carriers: 4

African
type: Population
allele count: 5
allele frequency: 5.567928730512249e-4
allele num: 8980
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.904393291233789e-4
allele num: 58908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6332
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 6.513809275664409e-4
allele num: 7676
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.904724716907458e-4
allele num: 10244
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 3.451846738004832e-4
allele num: 11588
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -9.686e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.09e-1

DP
type: SiteQuality
SIO_000300: 1.416136e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.69e-1

FS
type: SiteQuality
SIO_000300: 5.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.04e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.3e-1

GenotypeQuality
all individuals: 598
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 4.58341821144836e-4
allele num: 58908
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.908285565398645e-4
allele num: 7676
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6332
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.34075723830735e-4
allele num: 8980
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.904724716907458e-4
allele num: 10244
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 2.588885053503624e-4
allele num: 11588
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.04e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.686e-1

FS
type: SiteQuality
SIO_000300: 5.51e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.76e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e-1

QD
type: SiteQuality
SIO_000300: 9.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.09e-1

DP
type: SiteQuality
SIO_000300: 1.416136e6

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7676
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8980
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11588
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.51e0

VQSLOD
type: SiteQuality
SIO_000300: -9.686e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.04e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.09e-1

DP
type: SiteQuality
SIO_000300: 1.416136e6

QD
type: SiteQuality
SIO_000300: 9.3e-1

GenotypeQuality
all individuals: 625
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.65180046250413e-5
allele num: 60540
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7884
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10730
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9230
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.226e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.23e-1

QD
type: SiteQuality
SIO_000300: 8.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.94e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.617e-1

DP
type: SiteQuality
SIO_000300: 1.221996e6

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7684
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.043652415597155e-5
allele num: 48932
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3954
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.679999999999999e-1

DP
type: SiteQuality
SIO_000300: 9.5657e5

ClippingRankSum
type: SiteQuality
SIO_000300: -8.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.6e-3

QD
type: SiteQuality
SIO_000300: 1.006e1

Latino
type: Population
allele count: 26
allele frequency: 3.399581589958159e-3
allele num: 7648
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6050
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.64034e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.331e1

MQRankSum
type: SiteQuality
SIO_000300: 1.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

Latino
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: 14226
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.292e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

FS
type: SiteQuality
SIO_000300: 5.976e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

DP
type: SiteQuality
SIO_000300: 9.94757e5

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14226
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4062
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6134
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.292e1

DP
type: SiteQuality
SIO_000300: 9.94757e5

ClippingRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 5.976e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.659999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.15e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6772
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6170
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.028846541235244e-5
allele num: 49642
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4110
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

FS
type: SiteQuality
SIO_000300: 3.559e0

QD
type: SiteQuality
SIO_000300: 1.146e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

DP
type: SiteQuality
SIO_000300: 1.002293e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.53e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.0e-2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7978
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4222
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 658
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.76e-1

DP
type: SiteQuality
SIO_000300: 1.026604e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.229e1

MQRankSum
type: SiteQuality
SIO_000300: -5.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.572e0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8680
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.662565671344018e-5
allele num: 60148
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

DP
type: SiteQuality
SIO_000300: 1.337561e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.61e-1

QD
type: SiteQuality
SIO_000300: 1.46e1

FS
type: SiteQuality
SIO_000300: 0.0e0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8770
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.533e0

DP
type: SiteQuality
SIO_000300: 1.351167e6

MQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.53e0

QD
type: SiteQuality
SIO_000300: 1.161e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.56e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7768
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15358
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.533e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.56e-1

DP
type: SiteQuality
SIO_000300: 1.351167e6

QD
type: SiteQuality
SIO_000300: 1.161e1

FS
type: SiteQuality
SIO_000300: 9.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.48e-1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.245804797299491e-5
allele num: 61618
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8018
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8988
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.862e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.377414e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11188
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.02124183006536e-4
allele num: 9792
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8492
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16048
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64844
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.159e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.17e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.936e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 3.08e0

MQRankSum
type: SiteQuality
SIO_000300: 2.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e-1

DP
type: SiteQuality
SIO_000300: 1.462451e6

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65088
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11230
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.211180124223603e-5
allele num: 16100
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

VQSLOD
type: SiteQuality
SIO_000300: 4.86e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.426e1

DP
type: SiteQuality
SIO_000300: 1.469521e6

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.681907571288102e-5
allele num: 65088
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.780943900267142e-4
allele num: 11230
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.174536058256989e-4
allele num: 8514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16100
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9864
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

QD
type: SiteQuality
SIO_000300: 1.426e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.86e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e-1

DP
type: SiteQuality
SIO_000300: 1.469521e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

GenotypeQuality
all individuals: 6688
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65426
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.172077521293668e-5
allele num: 16202
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10028
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6276
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.98e1

FS
type: SiteQuality
SIO_000300: 1.017e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.771e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.81e-1

QD
type: SiteQuality
SIO_000300: 1.332e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.66e-1

DP
type: SiteQuality
SIO_000300: 1.481331e6

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16296
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6322
num of homozygotes: 0

East Asian
type: Population
allele count: 13
allele frequency: 1.513740102468561e-3
allele num: 8588
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65632
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.368e0

MQRankSum
type: SiteQuality
SIO_000300: 4.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

QD
type: SiteQuality
SIO_000300: 1.451e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.23e-1

DP
type: SiteQuality
SIO_000300: 1.488631e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508614187007815e-5
allele num: 66286
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16466
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.312e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.46e0

DP
type: SiteQuality
SIO_000300: 1.508869e6

MQ
type: SiteQuality
SIO_000300: 5.8e1

FS
type: SiteQuality
SIO_000300: 1.265e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-2

QD
type: SiteQuality
SIO_000300: 1.381e1

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
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: 10364
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505162708088744e-5
allele num: 66438
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 1.513524e6

QD
type: SiteQuality
SIO_000300: 1.279e1

MQRankSum
type: SiteQuality
SIO_000300: -2.558e0

FS
type: SiteQuality
SIO_000300: 1.293e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -9.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.79e-1

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 2961
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66460
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

MQRankSum
type: SiteQuality
SIO_000300: 4.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

DP
type: SiteQuality
SIO_000300: 1.514046e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.126e1

VQSLOD
type: SiteQuality
SIO_000300: 5.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 6.925e0

GenotypeQuality
all individuals: 42
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 928
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 28
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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

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

GenotypeQuality
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GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 39881
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.008785654110001e-5
allele num: 66472
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.528584530724549e-4
allele num: 6542
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 5.449e0

QD
type: SiteQuality
SIO_000300: 1.52e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.292e0

MQRankSum
type: SiteQuality
SIO_000300: 6.4e-2

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.877e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.14e0

DP
type: SiteQuality
SIO_000300: 1.514641e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.12e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 2
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 26
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GenotypeQuality
all individuals: 2389
bin: 7.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504211793020457e-5
allele num: 66480
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-2

DP
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

FS
type: SiteQuality
SIO_000300: 1.809e0

InbreedingCoeff
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SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 9.379999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.39e-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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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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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
all individuals: 4242
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variant carriers: 220

GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

African
type: Population
allele count: 217
allele frequency: 2.089351049489698e-2
allele num: 10386
num of homozygotes: 4

South Asian
type: Population
allele count: 2
allele frequency: 1.212415130940834e-4
allele num: 16496
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: 3
allele frequency: 2.596503375454388e-4
allele num: 11554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503036132988637e-5
allele num: 66532
num of homozygotes: 0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.21e-1

FS
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SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.526411e6

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

GenotypeQuality
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variant carriers: 0

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

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

African
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Latino
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Other
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East Asian
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European (Finnish)
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South Asian
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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FS
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VQSLOD
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MQRankSum
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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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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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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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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GenotypeQuality
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South Asian
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European (Non-Finnish)
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Latino
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East Asian
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European (Finnish)
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Other
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African
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VQSLOD
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BaseQRankSum
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MQRankSum
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QD
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MQ
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FS
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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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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GenotypeQuality
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South Asian
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African
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Latino
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Other
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European (Finnish)
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East Asian
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VQSLOD
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QD
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MQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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MQ
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DP
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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European (Non-Finnish)
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African
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East Asian
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European (Finnish)
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South Asian
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DP
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QD
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MQ
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BaseQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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MQRankSum
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African
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South Asian
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European (Non-Finnish)
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MQRankSum
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MQ
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VQSLOD
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QD
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DP
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ReadPosRankSum
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InbreedingCoeff
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African
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European (Non-Finnish)
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FS
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MQ
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MQRankSum
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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VQSLOD
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DP
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FS
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QD
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InbreedingCoeff
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MQ
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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MQ
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DP
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InbreedingCoeff
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VQSLOD
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MQRankSum
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QD
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FS
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European (Non-Finnish)
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African
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DP
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FS
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VQSLOD
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1114
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.75e1
variant carriers: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
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: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.528779e6

FS
type: SiteQuality
SIO_000300: 1.375e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

QD
type: SiteQuality
SIO_000300: 1.041e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

MQRankSum
type: SiteQuality
SIO_000300: -1.337e0

VQSLOD
type: SiteQuality
SIO_000300: 2.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.15e-1

GenotypeDepth
all individuals: 58
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 6.75e1
variant carriers: 1

GenotypeDepth
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bin: 2.5e0
variant carriers: 0

GenotypeDepth
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bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 9.75e1
variant carriers: 0

GenotypeDepth
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bin: 9.25e1
variant carriers: 0

GenotypeDepth
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bin: 8.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 2402
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1968
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1115
bin: 9.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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: 1.501095799933952e-5
allele num: 66618
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.047e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.19e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

BaseQRankSum
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SIO_000300: -4.497e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.528759e6

QD
type: SiteQuality
SIO_000300: 1.607e1

GenotypeDepth
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bin: 8.25e1
variant carriers: 0

GenotypeDepth
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bin: 1.25e1
variant carriers: 0

GenotypeDepth
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bin: 2.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 110
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 314
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variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 41
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1585
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7091
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2969
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1115
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1967
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2400
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4229
bin: 9.75e1
variant carriers: 3

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.728907330567082e-4
allele num: 11568
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.61e-1

DP
type: SiteQuality
SIO_000300: 1.528967e6

QD
type: SiteQuality
SIO_000300: 1.098e1

GenotypeDepth
all individuals: 314
bin: 5.75e1
variant carriers: 1

GenotypeDepth
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bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4
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variant carriers: 0

GenotypeDepth
all individuals: 30
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variant carriers: 0

GenotypeDepth
all individuals: 10118
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variant carriers: 0

GenotypeDepth
all individuals: 12
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variant carriers: 0

GenotypeDepth
all individuals: 41
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variant carriers: 0

GenotypeDepth
all individuals: 60
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variant carriers: 0

GenotypeDepth
all individuals: 206
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variant carriers: 0

GenotypeDepth
all individuals: 4384
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7091
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variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 4229
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39734
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1967
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2400
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2969
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1115
bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 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: 10402
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

MQRankSum
type: SiteQuality
SIO_000300: 2.61e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 1.528967e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e-1

QD
type: SiteQuality
SIO_000300: 1.098e1

GenotypeDepth
all individuals: 110
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 551
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variant carriers: 0

GenotypeDepth
all individuals: 16
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variant carriers: 0

GenotypeDepth
all individuals: 41019
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 29
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GenotypeDepth
all individuals: 64
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variant carriers: 0

GenotypeDepth
all individuals: 23
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2963
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2401
bin: 7.25e1
variant carriers: 0