http://identifiers.org/exac.variant/3-189838136-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838136
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838136
    reference: chr 3
allele count: 13
allele frequency: 2.990981041781705e-4
allele num: 43464
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.385G>T
  hgvsp: ENSP00000316881.5:p.Gly129Trp
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+1190G>T
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1856G>T
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14169
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23166
  bin: 7.5e0
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2160
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15078
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 29808
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1400
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5155
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 9.75e1
  variant carriers: 13
hgvs: p.Gly129Trp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

3-189838142-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838142
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838142
    reference: chr 3
allele count: 409
allele frequency: 1.076599105027639e-2
allele num: 37990
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+1184C>T
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.379C>T
  hgvsp: ENSP00000316881.5:p.Arg127Cys
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1850C>T
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 1.75e1
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 12142
  bin: 1.25e1
  variant carriers: 215
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22660
  bin: 7.5e0
  variant carriers: 212
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 2.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2707
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 17253
  bin: 2.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 3.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 1.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 9.75e1
  variant carriers: 353
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 3.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 9.25e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 27580
  bin: 2.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 8.25e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 7.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 6.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 2.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 18367
  bin: 7.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 1.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 8.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 3.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.75e1
  variant carriers: 16
hgvs: p.Arg127Cys
num of homozygotes: 15
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-189838144-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838144
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838144
    reference: chr 3
allele count: 8
allele frequency: 2.198164532615266e-4
allele num: 36394
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+1182A>T
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.377A>T
  hgvsp: ENSP00000316881.5:p.Gln126Leu
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1848A>T
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18411
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11755
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2654
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22148
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26890
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln126Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ

3-189838146-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838146
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838146
    reference: chr 3
allele count: 1
allele frequency: 2.839295854628052e-5
allele num: 35220
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.375C>T
  hgvsp: ENST00000319332.5:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+1180C>T
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1846C>T
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11067
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19676
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26787
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  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: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4705
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr125Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum

3-189838161-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838161
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838161
    reference: chr 3
allele count: 3
allele frequency: 1.465845793022574e-4
allele num: 20466
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+1165T>C
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.360T>C
  hgvsp: ENST00000319332.5:c.360T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1831T>C
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5060
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16723
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28669
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3190
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12210
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2865
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29180
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3664
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Tyr120Tyr
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-189838166-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838166
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838166
    reference: chr 3
allele count: 1
allele frequency: 5.936127270568681e-5
allele num: 16846
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+1160T>A
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.355T>A
  hgvsp: ENSP00000316881.5:p.Cys119Ser
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1826T>A
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29757
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4383
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4623
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3270
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27680
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3488
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8783
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys119Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

3-189838181-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838181
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838181
    reference: chr 3
allele count: 33
allele frequency: 2.005347593582888e-3
allele num: 16456
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.340T>C
  hgvsp: ENST00000319332.5:c.340T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1811T>C
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+1145T>C
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 1.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 32426
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14126
  bin: 7.5e0
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13769
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 33504
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 77
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 17
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genotype quality: GenotypeQuality
  all individuals: 36
  bin: 9.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 1.75e1
  variant carriers: 2
hgvs: p.Leu114Leu
num of homozygotes: 1
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: A
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-189838194-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838194
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838194
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 13680
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.327T>C
  hgvsp: ENST00000319332.5:c.327T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1798T>C
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+1132T>C
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9195
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33372
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8345
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 985
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 35385
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 362
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 484
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2283
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu109Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/3-189838200-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838200
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838200
    reference: chr 3
allele count: 2
allele frequency: 1.849112426035503e-4
allele num: 10816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+1126G>T
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1792G>T
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.321G>T
  hgvsp: ENST00000319332.5:c.321G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31114
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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: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5900
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2234
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31867
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu107Leu
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

3-189838202-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838202
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838202
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 9842
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.319C>T
  hgvsp: ENST00000319332.5:c.319C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+1124C>T
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1790C>T
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1255
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 30373
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genotype quality: GenotypeQuality
  all individuals: 395
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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: 673
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 659
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 70
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu107Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD

3-189838208-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838208
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838208
    reference: chr 3
allele count: 12
allele frequency: 1.671309192200557e-3
allele num: 7180
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+1118G>A
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.313G>A
  hgvsp: ENSP00000316881.5:p.Ala105Thr
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1784G>A
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 7.5e0
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 1001
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 28165
  bin: 2.5e0
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 25748
  bin: 7.5e0
  variant carriers: 5
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 270
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 593
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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: 432
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genotype quality: GenotypeQuality
  all individuals: 156
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genotype quality: GenotypeQuality
  all individuals: 103
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.75e1
  variant carriers: 10
hgvs: p.Ala105Thr
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-189838208-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838208
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838208
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 7180
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1784G>T
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.313G>T
  hgvsp: ENSP00000316881.5:p.Ala105Ser
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+1118G>T
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4541
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28165
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 3743
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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: 432
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 748
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 270
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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: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 156
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala105Ser
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

3-189838212-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838212
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838212
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 6270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+1114C>G
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.309C>G
  hgvsp: ENST00000319332.5:c.309C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1780C>G
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: synonymous
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26830
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4128
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3396
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24620
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro103Pro
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum

3-189838212-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838212
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838212
    reference: chr 3
allele count: 1
allele frequency: 1.594896331738437e-4
allele num: 6270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1780C>A
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.309C>A
  hgvsp: ENST00000319332.5:c.309C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+1114C>A
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26830
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24620
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4128
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3396
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro103Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

3-189838215-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838215
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838215
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 4768
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.306C>T
  hgvsp: ENST00000319332.5:c.306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1777C>T
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+1111C>T
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3752
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25364
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6335
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 802
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20968
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly102Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

3-189838224-G-GGGGGGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838224
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838230
    reference: chr 3
allele count: 1
allele frequency: 2.275830678197542e-4
allele num: 4394
alternate allele: GGGGGGC
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.291_296dupGCCCCC
  hgvsp: ENSP00000316881.5:p.Pro98_Pro99dup
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23875
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2819
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 1.75e1
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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: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 481
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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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: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro98_Pro99dup
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP

3-189838229-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838229
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838229
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 3742
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1763C>T
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+1097C>T
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.292C>T
  hgvsp: ENSP00000316881.5:p.Pro98Ser
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22724
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3686
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2423
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20129
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro98Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum

3-189838234-G-GGCGGGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838234
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838240
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 2958
alternate allele: GGCGGGA
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.281_286dupTCCCGC
  hgvsp: ENSP00000316881.5:p.Leu94_Pro95dup
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: inframe insertion
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20967
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18020
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3988
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu94_Pro95dup
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

3-189838236-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838236
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838236
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 2948
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+1090G>A
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1756G>A
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.285G>A
  hgvsp: ENST00000319332.5:c.285G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18931
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3546
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1998
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro95Pro
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

3-189838244-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838244
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838244
    reference: chr 3
allele count: 1
allele frequency: 3.965107057890563e-4
allele num: 2522
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+1082C>A
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.277C>A
  hgvsp: ENSP00000316881.5:p.Pro93Thr
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1748C>A
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21367
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1944
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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: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 79
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro93Thr
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

3-189838255-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838255
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838255
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 2540
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1737C>G
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+1071C>G
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.266C>G
  hgvsp: ENSP00000316881.5:p.Ala89Gly
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21725
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala89Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

3-189838261-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838261
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838261
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 1646
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+1065A>T
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.260A>T
  hgvsp: ENSP00000316881.5:p.His87Leu
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1731A>T
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14012
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10517
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
hgvs: p.His87Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/3-189838264-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838264
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838264
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 1544
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.257G>T
  hgvsp: ENSP00000316881.5:p.Arg86Leu
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1728G>T
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+1062G>T
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14793
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4875
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11127
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg86Leu
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

3-189838299-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838299
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838299
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 7070
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+1027C>T
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.222C>T
  hgvsp: ENST00000319332.5:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1693C>T
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35026
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6049
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1555
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33219
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5332
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His74His
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

3-189838304-TGCGCAGCGCCGCTTCCAAGTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838304
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838283
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 7980
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsp: ENSP00000316881.5:p.Asp66_Arg72del
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: inframe deletion
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 35242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7348
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6536
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33715
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2999
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp66_Arg72del
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: TGCGCAGCGCCGCTTCCAAGTC
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS

3-189838315-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838315
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838315
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 9868
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1677C>T
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.206C>T
  hgvsp: ENSP00000316881.5:p.Ala69Val
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+1011C>T
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13556
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32611
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 878
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12428
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3763
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31548
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala69Val
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

3-189838320-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838320
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838320
    reference: chr 3
allele count: 7
allele frequency: 6.696001530514636e-4
allele num: 10454
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.201G>A
  hgvsp: ENST00000319332.5:c.201G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+1006G>A
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1672G>A
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30153
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17046
  bin: 7.5e0
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 400
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  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29264
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3952
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 112
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 200
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Leu67Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS

3-189838325-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838325
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838325
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 10978
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+1001G>A
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.196G>A
  hgvsp: ENSP00000316881.5:p.Asp66Asn
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1667G>A
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27423
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20287
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26654
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19096
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 4120
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp66Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

3-189838332-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838332
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838332
    reference: chr 3
allele count: 1
allele frequency: 8.267195767195767e-5
allele num: 12096
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.189G>A
  hgvsp: ENST00000319332.5:c.189G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1660G>A
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+994G>A
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
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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
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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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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genotype quality: GenotypeQuality
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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: 211
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 67
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala63Ala
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-189838340-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838340
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838340
    reference: chr 3
allele count: 1
allele frequency: 7.362685907819172e-5
allele num: 13582
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.181G>T
  hgvsp: ENSP00000316881.5:p.Glu61Ter
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+986G>T
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1652G>T
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26749
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18779
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4686
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu61Ter
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

3-189838340-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838340
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838340
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 13582
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.181G>C
  hgvsp: ENSP00000316881.5:p.Glu61Gln
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1652G>C
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+986G>C
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19397
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18779
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 26749
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
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genotype quality: GenotypeQuality
  all individuals: 1763
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4686
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu61Gln
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

3-189838349-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838349
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838349
    reference: chr 3
allele count: 1
allele frequency: 6.776904310111141e-5
allele num: 14756
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+977G>C
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.172G>C
  hgvsp: ENSP00000316881.5:p.Gly58Arg
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1643G>C
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4947
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30490
  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 169
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28455
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genotype quality: GenotypeQuality
  all individuals: 646
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 284
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 586
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly58Arg
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

3-189838350-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838350
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838350
    reference: chr 3
allele count: 1
allele frequency: 6.727664155005382e-5
allele num: 14864
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1642C>T
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.171C>T
  hgvsp: ENST00000319332.5:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+976C>T
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
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genotype depth: GenotypeDepth
  all individuals: 171
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4920
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
  all individuals: 833
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 16
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 66
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genotype quality: GenotypeQuality
  all individuals: 9
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 16665
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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: 585
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genotype quality: GenotypeQuality
  all individuals: 122
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genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser57Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/3-189838351-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838351
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838351
    reference: chr 3
allele count: 1
allele frequency: 6.609385327164574e-5
allele num: 15130
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1641G>T
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+975G>T
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.170G>T
  hgvsp: ENSP00000316881.5:p.Ser57Ile
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 28419
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 19
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 589
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 368
  bin: 2.75e1
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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: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser57Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

3-189838354-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838354
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838354
    reference: chr 3
allele count: 1
allele frequency: 6.435834727764191e-5
allele num: 15538
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1638A>G
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.167A>G
  hgvsp: ENSP00000316881.5:p.Tyr56Cys
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+972A>G
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 31053
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.75e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 103
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
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  variant carriers: 0
hgvs: p.Tyr56Cys
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS

3-189838361-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838361
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838361
    reference: chr 3
allele count: 4
allele frequency: 2.502502502502502e-4
allele num: 15984
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.160G>A
  hgvsp: ENSP00000316881.5:p.Ala54Thr
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1631G>A
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+965G>A
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31166
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  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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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: 3
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
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  variant carriers: 0
hgvs: p.Ala54Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

3-189838362-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838362
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838362
    reference: chr 3
allele count: 1
allele frequency: 6.19348445435402e-5
allele num: 16146
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+964C>A
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.159C>A
  hgvsp: ENST00000319332.5:c.159C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1630C>A
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16105
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
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genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 123
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genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala53Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

3-189838363-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838363
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838362
    reference: chr 3
allele count: 1
allele frequency: 6.152331733727083e-5
allele num: 16254
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.157delG
  hgvsp: ENSP00000316881.5:p.Ala53ProfsTer151
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1628delG
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+962delG
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 31248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16084
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 790
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15571
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28798
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2552
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4962
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala53ProfsTer151
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: GC
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-189838371-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838371
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838371
    reference: chr 3
allele count: 26
allele frequency: 1.506198586490557e-3
allele num: 17262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1621C>T
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.150C>T
  hgvsp: ENST00000319332.5:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+955C>T
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 31205
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15726
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15345
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29892
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1768
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 6.75e1
  variant carriers: 2
hgvs: p.Ser50Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-189838376-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838376
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838376
    reference: chr 3
allele count: 2
allele frequency: 1.134044000907235e-4
allele num: 17636
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.145G>T
  hgvsp: ENSP00000316881.5:p.Ala49Ser
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+950G>T
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1616G>T
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30911
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15847
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5152
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30016
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15596
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 400
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genotype quality: GenotypeQuality
  all individuals: 699
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genotype quality: GenotypeQuality
  all individuals: 63
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genotype quality: GenotypeQuality
  all individuals: 40
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala49Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

3-189838380-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838380
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838380
    reference: chr 3
allele count: 1
allele frequency: 5.672149744753262e-5
allele num: 17630
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1612C>G
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.141C>G
  hgvsp: ENST00000319332.5:c.141C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+946C>G
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16552
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
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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: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 793
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.75e1
  variant carriers: 1
hgvs: p.Leu47Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

3-189838380-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838380
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838380
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 17630
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+946C>T
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.141C>T
  hgvsp: ENST00000319332.5:c.141C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1612C>T
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: synonymous
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16552
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30132
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28758
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16257
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2170
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4736
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Leu47Leu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

3-189838386-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838386
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838386
    reference: chr 3
allele count: 1
allele frequency: 5.615453728661276e-5
allele num: 17808
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.135C>T
  hgvsp: ENST00000319332.5:c.135C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1606C>T
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+940C>T
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17307
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17174
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4537
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28351
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 457
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp45Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

3-189838389-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838389
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838389
    reference: chr 3
allele count: 2
allele frequency: 1.128923007450892e-4
allele num: 17716
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.132C>A
  hgvsp: ENSP00000316881.5:p.Phe44Leu
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1603C>A
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+937C>A
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28537
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17885
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17796
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 870
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1645
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4408
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27779
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
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genotype quality: GenotypeQuality
  all individuals: 15
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genotype quality: GenotypeQuality
  all individuals: 23
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genotype quality: GenotypeQuality
  all individuals: 562
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genotype quality: GenotypeQuality
  all individuals: 112
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Phe44Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/3-189838391-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838391
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838391
    reference: chr 3
allele count: 1
allele frequency: 5.763024435223605e-5
allele num: 17352
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.130T>G
  hgvsp: ENSP00000316881.5:p.Phe44Val
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+935T>G
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1601T>G
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26904
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19369
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 869
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 233
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genotype quality: GenotypeQuality
  all individuals: 2520
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 89
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genotype quality: GenotypeQuality
  all individuals: 536
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe44Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-189838395-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838395
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838395
    reference: chr 3
allele count: 1
allele frequency: 5.772338951743246e-5
allele num: 17324
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.126G>A
  hgvsp: ENST00000319332.5:c.126G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1597G>A
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+931G>A
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3420
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 26174
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
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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
  all individuals: 3828
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln42Gln
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-189838397-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838397
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838396
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 17070
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.123delG
  hgvsp: ENSP00000316881.5:p.Gln42SerfsTer162
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+928delG
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1594delG
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: frameshift
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25278
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20819
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23594
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1159
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3661
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20649
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gln42SerfsTer162
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: GC
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

3-189838407-G-GGGCTCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838407
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838413
    reference: chr 3
allele count: 2
allele frequency: 1.249219237976265e-4
allele num: 16010
alternate allele: GGGCTCC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+913_-64+918dupGGAGCC
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.108_113dupGGAGCC
  hgvsp: ENSP00000316881.5:p.Glu37_Pro38dup
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24411
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3333
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1942
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19615
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3198
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24273
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu37_Pro38dup
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

3-189838408-G-GGCTCCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838408
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838414
    reference: chr 3
allele count: 1
allele frequency: 6.24687656171914e-5
allele num: 16008
alternate allele: GGCTCCA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+912_-64+917dupTGGAGC
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.107_112dupTGGAGC
  hgvsp: ENSP00000316881.5:p.Leu36_Glu37dup
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21202
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24826
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19365
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1901
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24706
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3181
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu36_Glu37dup
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

3-189838408-G-GGTTCCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838408
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838414
    reference: chr 3
allele count: 1
allele frequency: 6.24687656171914e-5
allele num: 16008
alternate allele: GGTTCCA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+917_-64+918insTGGAAC
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.112_113insTGGAAC
  hgvsp: ENSP00000316881.5:p.Leu36_Glu37dup
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24826
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21202
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1901
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24706
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3181
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19365
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu36_Glu37dup
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/3-189838410-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838410
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838410
    reference: chr 3
allele count: 1
allele frequency: 6.996921354603975e-5
allele num: 14292
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.111G>T
  hgvsp: ENSP00000316881.5:p.Glu37Asp
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1582G>T
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+916G>T
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18834
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26734
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14498
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26111
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3938
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2618
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu37Asp
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-189838411-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838411
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838411
    reference: chr 3
allele count: 1
allele frequency: 6.953135864274787e-5
allele num: 14382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1581A>G
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.110A>G
  hgvsp: ENSP00000316881.5:p.Glu37Gly
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+915A>G
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2938
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26797
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2788
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18901
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3595
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26220
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 14898
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu37Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

3-189838413-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838413
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838413
    reference: chr 3
allele count: 1
allele frequency: 6.930006930006929e-5
allele num: 14430
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.108G>A
  hgvsp: ENST00000319332.5:c.108G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1579G>A
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+913G>A
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18909
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26937
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2954
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26495
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15555
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1469
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 287
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2840
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu36Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

3-189838420-AGCTCCC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838420
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838414
    reference: chr 3
allele count: 1
allele frequency: 7.207726683004181e-5
allele num: 13874
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.95_100delGGGAGC
  hgvsp: ENSP00000316881.5:p.Arg32_Glu33del
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+900_-64+905delGGGAGC
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17282
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28428
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1296
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2909
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28087
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14875
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg32_Glu33del
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: AGCTCCC
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

3-189838427-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838427
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838427
    reference: chr 3
allele count: 1
allele frequency: 7.654623392529088e-5
allele num: 13064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1565C>T
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+899C>T
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.94C>T
  hgvsp: ENSP00000316881.5:p.Arg32Trp
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30388
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12383
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30211
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2777
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg32Trp
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

3-189838428-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838428
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838428
    reference: chr 3
allele count: 1
allele frequency: 7.651109410864575e-5
allele num: 13070
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.93C>T
  hgvsp: ENST00000319332.5:c.93C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+898C>T
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1564C>T
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14567
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30504
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2827
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30363
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12547
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1351
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg31Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/3-189838439-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838439
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838439
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 11638
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1553G>T
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+887G>T
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.82G>T
  hgvsp: ENSP00000316881.5:p.Asp28Tyr
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32928
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9431
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2001
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2579
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32030
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6688
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Asp28Tyr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

3-189838440-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838440
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838440
    reference: chr 3
allele count: 4
allele frequency: 3.488574917146346e-4
allele num: 11466
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1552G>A
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.81G>A
  hgvsp: ENST00000319332.5:c.81G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+886G>A
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33048
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2566
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6507
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 135
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genotype quality: GenotypeQuality
  all individuals: 313
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32051
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro27Pro
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum

3-189838441-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838441
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838441
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 11494
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+885C>G
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1551C>G
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.80C>G
  hgvsp: ENSP00000316881.5:p.Pro27Arg
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9162
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 986
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6852
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32507
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1177
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro27Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

3-189838443-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838443
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838443
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 11460
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1549C>T
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.78C>T
  hgvsp: ENST00000319332.5:c.78C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+883C>T
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33541
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8597
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32934
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6500
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro26Pro
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

3-189838445-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838445
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838445
    reference: chr 3
allele count: 1
allele frequency: 8.880994671403197e-5
allele num: 11260
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.76C>G
  hgvsp: ENSP00000316881.5:p.Pro26Ala
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+881C>G
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1547C>G
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8034
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33652
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 614
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32924
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2757
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 5889
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genotype quality: GenotypeQuality
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro26Ala
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

3-189838446-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838446
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838446
    reference: chr 3
allele count: 1
allele frequency: 8.952551477170994e-5
allele num: 11170
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1546C>G
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+880C>G
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.75C>G
  hgvsp: ENST00000319332.5:c.75C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33640
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7800
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5575
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 281
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
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genotype quality: GenotypeQuality
  all individuals: 591
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 2108
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32611
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly25Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-189838458-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838458
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838458
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 10678
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1534A>C
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.63A>C
  hgvsp: ENST00000319332.5:c.63A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+868A>C
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32124
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2863
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30727
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2371
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2930
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro21Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

3-189838470-T-TAGCAGCGGCAGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838470
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838482
    reference: chr 3
allele count: 1
allele frequency: 9.556574923547401e-5
allele num: 10464
alternate allele: TAGCAGCGGCAGC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsp: ENSP00000316881.5:p.Leu14_Leu17dup
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29037
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2778
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27621
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1586
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3070
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu14_Leu17dup
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

3-189838471-A-AGCAGCG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838471
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838477
    reference: chr 3
allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
alternate allele: AGCAGCG
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.44_49dupCGCTGC
  hgvsp: ENSP00000316881.5:p.Pro15_Leu16dup
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+849_-64+854dupCGCTGC
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26994
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24700
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3021
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro15_Leu16dup
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
reference allele: A
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

3-189838474-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838474
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838474
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 10430
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1518T>C
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+852T>C
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.47T>C
  hgvsp: ENSP00000316881.5:p.Leu16Pro
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27174
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25317
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2547
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3092
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu16Pro
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum

3-189838477-G-GGCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838477
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838480
    reference: chr 3
allele count: 1
allele frequency: 9.844457570387872e-5
allele num: 10158
alternate allele: GGCA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+846_-64+848dupTGC
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1512_-64+1514dupTGC
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.41_43dupTGC
  hgvsp: ENSP00000316881.5:p.Leu14dup
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26655
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24692
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3016
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 6.75e1
  variant carriers: 1
hgvs: p.Leu14dup
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

3-189838477-G-GGCAGCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838477
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838483
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 10158
alternate allele: GGCAGCA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+843_-64+848dupTGCTGC
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.38_43dupTGCTGC
  hgvsp: ENSP00000316881.5:p.Leu13_Leu14dup
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26655
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24692
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3016
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu13_Leu14dup
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

3-189838477-GGCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838477
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838474
    reference: chr 3
allele count: 30
allele frequency: 2.953337271116361e-3
allele num: 10158
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.41_43delTGC
  hgvsp: ENSP00000316881.5:p.Leu14del
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1512_-64+1514delTGC
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+846_-64+848delTGC
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 26655
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2360
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 3.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3016
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24692
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.75e1
  variant carriers: 3
hgvs: p.Leu14del
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: GGCA
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

3-189838480-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838480
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838480
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 9928
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.41T>C
  hgvsp: ENSP00000316881.5:p.Leu14Pro
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1512T>C
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+846T>C
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23645
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3955
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20673
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2708
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu14Pro
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum

3-189838484-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838484
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838484
    reference: chr 3
allele count: 3
allele frequency: 2.884060757546626e-4
allele num: 10402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1508C>T
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.37C>T
  hgvsp: ENST00000319332.5:c.37C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+842C>T
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24479
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22709
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3119
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu13Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

3-189838489-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838489
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838489
    reference: chr 3
allele count: 1
allele frequency: 9.582215408202377e-5
allele num: 10436
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1503T>C
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.32T>C
  hgvsp: ENSP00000316881.5:p.Leu11Pro
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+837T>C
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22634
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20696
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3230
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu11Pro
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: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

3-189838492-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838492
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838492
    reference: chr 3
allele count: 1
allele frequency: 9.646922631680494e-5
allele num: 10366
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.29T>C
  hgvsp: ENSP00000316881.5:p.Leu10Pro
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+834T>C
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1500T>C
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21657
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2620
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19411
  bin: 7.5e0
  variant carriers: 1
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: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 763
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 56
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 139
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genotype quality: GenotypeQuality
  all individuals: 38
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genotype quality: GenotypeQuality
  all individuals: 276
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu10Pro
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff

3-189838494-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838494
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838494
    reference: chr 3
allele count: 4
allele frequency: 3.830683777054204e-4
allele num: 10442
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+832G>C
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.27G>C
  hgvsp: ENST00000319332.5:c.27G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1498G>C
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21233
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 476
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro9Pro
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQ

3-189838499-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838499
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838499
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 10452
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+827C>T
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1493C>T
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.22C>T
  hgvsp: ENSP00000316881.5:p.Pro8Ser
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro8Ser
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

3-189838512-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 189838512
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 189838512
    reference: chr 3
allele count: 1
allele frequency: 9.500285008550257e-5
allele num: 10526
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000408947
  ensembl transcript: ENST00000427335
  gene symbol: LEPREL1
  hgvsc: ENST00000427335.2:c.-64+1480G>A
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000394326
  ensembl transcript: ENST00000426003
  gene symbol: LEPREL1
  hgvsc: ENST00000426003.1:c.-64+814G>A
  variant of: http://identifiers.org/hgnc/19317
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000090530
  ensembl protein: ENSP00000316881
  ensembl transcript: ENST00000319332
  gene symbol: LEPREL1
  hgvsc: ENST00000319332.5:c.9G>A
  hgvsp: ENST00000319332.5:c.9G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19317
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2021
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3387
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14280
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu3Glu
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C

GenotypeQuality
all individuals: 18
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1172
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 1.088534107402032e-3
allele num: 2756
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3094
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9620
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 7.808433107756377e-4
allele num: 3842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 3.087236482314545e-4
allele num: 22674
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.17e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.72e-1

DP
type: SiteQuality
SIO_000300: 5.91299e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

QD
type: SiteQuality
SIO_000300: 1.248e1

GenotypeQuality
all individuals: 4814
bin: 6.25e1
variant carriers: 16

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.544322042623288e-4
allele num: 19426
num of homozygotes: 0

Latino
type: Population
allele count: 18
allele frequency: 8.579599618684462e-3
allele num: 2098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9254
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2634
num of homozygotes: 0

African
type: Population
allele count: 387
allele frequency: 1.152471709350804e-1
allele num: 3358
num of homozygotes: 15

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 960
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 3.846153846153846e-3
allele num: 260
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.421e1

FS
type: SiteQuality
SIO_000300: 2.582e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.43e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.72e-2

DP
type: SiteQuality
SIO_000300: 5.50786e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3028
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 8.754650908295032e-4
allele num: 9138
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2516
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1930
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.36893e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.99e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.37e-1

FS
type: SiteQuality
SIO_000300: 9.869999999999999e0

QD
type: SiteQuality
SIO_000300: 1.029e1

VQSLOD
type: SiteQuality
SIO_000300: -1.191e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

GenotypeQuality
all individuals: 48
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1796
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9072
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.583472920156337e-5
allele num: 17910
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.223e0

QD
type: SiteQuality
SIO_000300: 8.06e0

DP
type: SiteQuality
SIO_000300: 5.2323e5

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

GenotypeQuality
all individuals: 9
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.024291497975709e-3
allele num: 988
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 302
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 7.78816199376947e-4
allele num: 1284
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7964
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9176
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.380000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.64e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

DP
type: SiteQuality
SIO_000300: 3.96577e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.25e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.36e-1

GenotypeQuality
all individuals: 9
bin: 9.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.445922498554077e-4
allele num: 6916
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 662
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7764
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.69981e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.371e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.88e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.888e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.859999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.331e1

GenotypeQuality
all individuals: 722
bin: 6.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

African
type: Population
allele count: 31
allele frequency: 3.498871331828442e-2
allele num: 886
num of homozygotes: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 6.578947368421052e-3
allele num: 152
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.631578947368421e-3
allele num: 380
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.62727e5

VQSLOD
type: SiteQuality
SIO_000300: 7.74e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

QD
type: SiteQuality
SIO_000300: 1.56e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.87e-2

FS
type: SiteQuality
SIO_000300: 3.042e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.48e-1

GenotypeQuality
all individuals: 59
bin: 7.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 504
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4880
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 76
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.969999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.52e0

QD
type: SiteQuality
SIO_000300: 1.207e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.91789e5

GenotypeQuality
all individuals: 976
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3354
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 3.079765937788728e-4
allele num: 6494
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.649999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.03e-1

FS
type: SiteQuality
SIO_000300: 4.253e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.96e-1

DP
type: SiteQuality
SIO_000300: 2.1993e5

VQSLOD
type: SiteQuality
SIO_000300: -1.529e0

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2922
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6114
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.99278e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.83e-2

QD
type: SiteQuality
SIO_000300: 1.73e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
all individuals: 2
bin: 7.75e1
variant carriers: 2

African
type: Population
allele count: 1
allele frequency: 4.464285714285714e-3
allele num: 224
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 5.020080321285141e-3
allele num: 1992
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 82
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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MQRankSum
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BaseQRankSum
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DP
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VQSLOD
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FS
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MQ
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ReadPosRankSum
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QD
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ClippingRankSum
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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Other
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South Asian
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Latino
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DP
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FS
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ReadPosRankSum
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QD
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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MQ
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BaseQRankSum
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African
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East Asian
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European (Non-Finnish)
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South Asian
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Latino
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European (Finnish)
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MQRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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DP
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QD
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FS
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ClippingRankSum
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GenotypeQuality
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African
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European (Non-Finnish)
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Latino
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East Asian
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European (Finnish)
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South Asian
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Other
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DP
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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ClippingRankSum
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BaseQRankSum
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MQ
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GenotypeQuality
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Latino
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European (Finnish)
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African
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European (Non-Finnish)
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South Asian
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East Asian
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Other
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VQSLOD
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MQ
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ClippingRankSum
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DP
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FS
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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QD
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ReadPosRankSum
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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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East Asian
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South Asian
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European (Non-Finnish)
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QD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQ
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BaseQRankSum
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VQSLOD
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FS
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InbreedingCoeff
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DP
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GenotypeQuality
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African
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Latino
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European (Finnish)
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Other
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European (Non-Finnish)
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South Asian
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East Asian
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DP
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ReadPosRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ClippingRankSum
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QD
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FS
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BaseQRankSum
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Other
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European (Finnish)
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African
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East Asian
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Latino
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European (Non-Finnish)
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FS
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InbreedingCoeff
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ClippingRankSum
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QD
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BaseQRankSum
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MQRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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DP
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GenotypeQuality
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South Asian
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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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MQRankSum
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MQ
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ClippingRankSum
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DP
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ReadPosRankSum
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FS
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BaseQRankSum
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VQSLOD
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QD
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InbreedingCoeff
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GenotypeQuality
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Latino
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South Asian
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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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Other
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BaseQRankSum
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QD
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MQ
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MQRankSum
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FS
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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DP
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ClippingRankSum
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GenotypeQuality
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African
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European (Finnish)
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Other
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East Asian
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European (Non-Finnish)
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Latino
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South Asian
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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QD
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BaseQRankSum
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DP
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MQRankSum
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FS
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MQ
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ReadPosRankSum
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GenotypeQuality
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Latino
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European (Finnish)
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African
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East Asian
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European (Non-Finnish)
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South Asian
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BaseQRankSum
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VQSLOD
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MQRankSum
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FS
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ReadPosRankSum
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InbreedingCoeff
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QD
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DP
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MQ
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GenotypeQuality
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African
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Other
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East Asian
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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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VQSLOD
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ReadPosRankSum
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MQ
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FS
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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QD
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GenotypeQuality
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European (Finnish)
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South Asian
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European (Non-Finnish)
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Latino
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East Asian
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African
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ClippingRankSum
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InbreedingCoeff
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MQ
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DP
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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FS
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VQSLOD
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QD
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African
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Latino
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South Asian
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European (Non-Finnish)
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Other
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East Asian
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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QD
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DP
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

MQRankSum
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MQ
type: SiteQuality
SIO_000300: 4.831e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

FS
type: SiteQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-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
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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 102
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.96e-2

QD
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FS
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VQSLOD
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MQRankSum
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SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.5e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.72449e5

GenotypeQuality
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variant carriers: 10

South Asian
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allele frequency: 0.0e0
allele num: 6986
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.117734724292101e-3
allele num: 2684
num of homozygotes: 0

Latino
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allele frequency: 1.149425287356322e-2
allele num: 174
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 210
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African
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allele frequency: 4.23728813559322e-3
allele num: 236
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Other
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allele frequency: 9.259259259259259e-3
allele num: 108
num of homozygotes: 0

MQ
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -6.16e-2

DP
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e-1

VQSLOD
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BaseQRankSum
type: SiteQuality
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FS
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

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

DP
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.881e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
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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
allele num: 370
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.35685210312076e-4
allele num: 7370
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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ClippingRankSum
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SIO_000300: -1.926e0

ReadPosRankSum
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InbreedingCoeff
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DP
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QD
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MQ
type: SiteQuality
SIO_000300: 5.855e1

FS
type: SiteQuality
SIO_000300: 2.663e0

BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

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
allele num: 102
num of homozygotes: 0

South Asian
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allele frequency: 1.328021248339973e-4
allele num: 7530
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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DP
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FS
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 8.960000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 7530
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4372
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: 3.35e-2

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e0

DP
type: SiteQuality
SIO_000300: 3.89301e5

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5034
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Other
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele frequency: 1.310272536687631e-4
allele num: 7632
num of homozygotes: 0

MQ
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.92e-1

DP
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -3.83e-2

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.138e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.96078431372549e-4
allele num: 5100
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 590
num of homozygotes: 0

South Asian
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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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East Asian
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allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

European (Finnish)
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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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num of homozygotes: 0

DP
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MQRankSum
type: SiteQuality
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VQSLOD
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FS
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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MQ
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QD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -3.85e-2

GenotypeQuality
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variant carriers: 1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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Latino
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allele frequency: 1.612903225806452e-3
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East Asian
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Other
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allele frequency: 0.0e0
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FS
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MQRankSum
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QD
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DP
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQ
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ClippingRankSum
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

South Asian
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allele frequency: 1.298026998961578e-4
allele num: 7704
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Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 5514
num of homozygotes: 0

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

South Asian
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num of homozygotes: 0

East Asian
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Other
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African
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 6.944444444444445e-4
allele num: 5760
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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South Asian
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East Asian
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European (Non-Finnish)
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African
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allele num: 616
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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FS
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MQ
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ReadPosRankSum
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MQRankSum
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VQSLOD
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DP
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QD
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GenotypeQuality
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variant carriers: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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Latino
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African
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South Asian
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East Asian
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European (Non-Finnish)
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allele frequency: 1.686909581646424e-4
allele num: 5928
num of homozygotes: 0

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

African
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 942
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

South Asian
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allele frequency: 3.312101910828025e-3
allele num: 7850
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

FS
type: SiteQuality
SIO_000300: 1.112e0

QD
type: SiteQuality
SIO_000300: 9.119999999999999e0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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DP
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.46e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.482359916987845e-4
allele num: 6746
num of homozygotes: 0

East Asian
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allele frequency: 1.01010101010101e-3
allele num: 990
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 152
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African
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allele frequency: 0.0e0
allele num: 746
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South Asian
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Latino
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allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.164e0

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.906e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.23e-1

QD
type: SiteQuality
SIO_000300: 5.55e0

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 7838
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.478852410529429e-4
allele num: 6762
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 4.31e0

MQRankSum
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

DP
type: SiteQuality
SIO_000300: 4.26757e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.01e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6762
num of homozygotes: 0

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

MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.31e0

DP
type: SiteQuality
SIO_000300: 4.26757e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e0

MQRankSum
type: SiteQuality
SIO_000300: 7.78e-1

ClippingRankSum
type: SiteQuality
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QD
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.01e-2

VQSLOD
type: SiteQuality
SIO_000300: -3.738e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 262
num of homozygotes: 0

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

South Asian
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allele frequency: 1.276487107480215e-4
allele num: 7834
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6874
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-1

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.498e1

VQSLOD
type: SiteQuality
SIO_000300: -6.798999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.87e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.25e-1

DP
type: SiteQuality
SIO_000300: 4.21266e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

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: 256
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7812
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.012072434607646e-3
allele num: 994
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6856
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.03e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

DP
type: SiteQuality
SIO_000300: 4.17192e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.545e0

FS
type: SiteQuality
SIO_000300: 3.436e0

VQSLOD
type: SiteQuality
SIO_000300: 7.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.33e-1

QD
type: SiteQuality
SIO_000300: 9.85e0

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: 832
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

Other
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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
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6632
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 1.284686536485098e-4
allele num: 7784
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.345000000000001e0

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-2

DP
type: SiteQuality
SIO_000300: 4.04218e5

MQRankSum
type: SiteQuality
SIO_000300: 6.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.87e-1

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

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.66e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 970
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50195253829979e-4
allele num: 6658
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 804
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 720
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 150
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7786
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.317e1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.44e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.398e0

MQRankSum
type: SiteQuality
SIO_000300: -1.835e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.25e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 150
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 916
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 704
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South Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 3.9274e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.61e-2

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

East Asian
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allele frequency: 1.2531328320802e-3
allele num: 798
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 708
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 count: 0
allele frequency: 0.0e0
allele num: 140
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5882
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South Asian
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allele frequency: 1.30684788290643e-4
allele num: 7652
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MQ
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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InbreedingCoeff
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele frequency: 1.587301587301587e-3
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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

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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South Asian
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Other
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BaseQRankSum
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MQ
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DP
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ClippingRankSum
type: SiteQuality
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FS
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MQRankSum
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VQSLOD
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QD
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ReadPosRankSum
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InbreedingCoeff
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

East Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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allele frequency: 1.305483028720627e-4
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num of homozygotes: 0

Latino
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num of homozygotes: 0

ClippingRankSum
type: SiteQuality
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DP
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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MQ
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FS
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VQSLOD
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QD
type: SiteQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Finnish)
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Latino
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East Asian
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African
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European (Non-Finnish)
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South Asian
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Other
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BaseQRankSum
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QD
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InbreedingCoeff
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MQRankSum
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DP
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MQ
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VQSLOD
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FS
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
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European (Finnish)
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South Asian
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East Asian
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Latino
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.025111381125962e-4
allele num: 4938
num of homozygotes: 0

QD
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FS
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MQ
type: SiteQuality
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BaseQRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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DP
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SIO_000300: 3.40276e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 1

Latino
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allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7512
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.006420545746388e-4
allele num: 4984
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 498
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.39698e5

VQSLOD
type: SiteQuality
SIO_000300: -1.29e0

FS
type: SiteQuality
SIO_000300: 4.481e0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.95e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.182e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 144
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7474
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 96
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 470
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.157031924072476e-4
allele num: 4636
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.376e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 8.800000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

FS
type: SiteQuality
SIO_000300: 1.965e0

DP
type: SiteQuality
SIO_000300: 3.26057e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.24e-2

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7404
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 80
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 452
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.41196333815726e-4
allele num: 4146
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.75e-2

DP
type: SiteQuality
SIO_000300: 3.06843e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.685e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.455e0

QD
type: SiteQuality
SIO_000300: 1.518e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 84
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 460
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.349527665317139e-4
allele num: 7410
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4132
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.74e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.376e0

VQSLOD
type: SiteQuality
SIO_000300: -5.327e-1

QD
type: SiteQuality
SIO_000300: 1.37e1

MQ
type: SiteQuality
SIO_000300: 5.922e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.962e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

MQRankSum
type: SiteQuality
SIO_000300: 5.56e-1

DP
type: SiteQuality
SIO_000300: 3.06378e5

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7254
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3348
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.059e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.31e-1

QD
type: SiteQuality
SIO_000300: 7.88e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

DP
type: SiteQuality
SIO_000300: 2.67612e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-2

FS
type: SiteQuality
SIO_000300: 2.398e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
num of homozygotes: 0

European (Non-Finnish)
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allele count: 4
allele frequency: 1.226993865030675e-3
allele num: 3260
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7202
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.341e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.942e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.98e-2

FS
type: SiteQuality
SIO_000300: 2.188e0

DP
type: SiteQuality
SIO_000300: 2.66912e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 40
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3284
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7202
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.159e0

VQSLOD
type: SiteQuality
SIO_000300: -7.279e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.98e-2

QD
type: SiteQuality
SIO_000300: 2.176e1

DP
type: SiteQuality
SIO_000300: 2.66884e5

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 32
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3232
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.026e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.046e1

VQSLOD
type: SiteQuality
SIO_000300: -1.578e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.870000000000001e-2

DP
type: SiteQuality
SIO_000300: 2.62081e5

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.703703703703704e-3
allele num: 270
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3128
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 20
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South Asian
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allele frequency: 0.0e0
allele num: 7224
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.139999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.03e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.71e-1

QD
type: SiteQuality
SIO_000300: 2.291e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.52e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.097e-1

DP
type: SiteQuality
SIO_000300: 2.57072e5

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 7220
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 3.26797385620915e-4
allele num: 3060
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 22
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 9.449999999999999e0

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 2762
num of homozygotes: 0

South Asian
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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

European (Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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South Asian
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allele frequency: 1.383508577753182e-4
allele num: 7228
num of homozygotes: 0

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

Other
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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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European (Finnish)
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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

FS
type: SiteQuality
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MQRankSum
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BaseQRankSum
type: SiteQuality
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DP
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.660000000000001e-2

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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Other
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East Asian
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African
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MQ
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.840000000000001e-2

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
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East Asian
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Latino
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African
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DP
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.234e0

QD
type: SiteQuality
SIO_000300: 9.94e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.06e-1

GenotypeQuality
all individuals: 52
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.410437235543018e-4
allele num: 7090
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2502
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.39e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.679999999999999e-1

QD
type: SiteQuality
SIO_000300: 4.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.816e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.6e-1

FS
type: SiteQuality
SIO_000300: 4.626e0

DP
type: SiteQuality
SIO_000300: 2.06139e5

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

GenotypeQuality
all individuals: 170
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2502
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7090
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.6e-1

FS
type: SiteQuality
SIO_000300: 4.626e0

VQSLOD
type: SiteQuality
SIO_000300: 5.679999999999999e-1

QD
type: SiteQuality
SIO_000300: 4.19e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.39e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 2.06139e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.816e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 618
bin: 6.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 2.797761790567546e-3
allele num: 2502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 152
num of homozygotes: 0

South Asian
type: Population
allele count: 23
allele frequency: 3.244005641748942e-3
allele num: 7090
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.679999999999999e-1

QD
type: SiteQuality
SIO_000300: 4.19e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 2.06139e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.816e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.39e-1

FS
type: SiteQuality
SIO_000300: 4.626e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.7e-2

GenotypeQuality
all individuals: 602
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6974
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.429999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

QD
type: SiteQuality
SIO_000300: 1.303e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.96473e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.56e-1

GenotypeQuality
all individuals: 61
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2550
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7304
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 1.5625e-2
allele num: 192
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 144
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.178e0

VQSLOD
type: SiteQuality
SIO_000300: -2.07e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.939999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 1.626e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 1.97933e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

GenotypeQuality
all individuals: 156
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2568
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.365747063643813e-4
allele num: 7322
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.623e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.101e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e0

MQ
type: SiteQuality
SIO_000300: 5.693e1

FS
type: SiteQuality
SIO_000300: 4.471e0

MQRankSum
type: SiteQuality
SIO_000300: 2.61e0

DP
type: SiteQuality
SIO_000300: 1.91882e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.433e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.96e-2

QD
type: SiteQuality
SIO_000300: 1.269e1

GenotypeQuality
all individuals: 3200
bin: 6.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.370614035087719e-4
allele num: 7296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2538
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.95e-1

DP
type: SiteQuality
SIO_000300: 1.89505e5

QD
type: SiteQuality
SIO_000300: 5.18e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.15e-2

GenotypeQuality
all individuals: 3251
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 1.08695652173913e-2
allele num: 92
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 138
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.90015600624025e-4
allele num: 2564
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.723311546840959e-4
allele num: 7344
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.43e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.35e-1

FS
type: SiteQuality
SIO_000300: 5.407e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.404e0

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.92e-2

DP
type: SiteQuality
SIO_000300: 1.86765e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 58
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 90
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2572
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.184e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.840000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

QD
type: SiteQuality
SIO_000300: 1.514e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

DP
type: SiteQuality
SIO_000300: 1.8028e5

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 90
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.352082206598161e-4
allele num: 7396
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0