3-81640340-ATATAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81640340
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81640335
    reference: chr 3
allele count: 98
allele frequency: 1.72316781544521e-3
allele num: 56872
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.1109-30_1109-26delATATA
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.986-30_986-26delATATA
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17027
  bin: 1.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 1.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8421
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22957
  bin: 7.5e0
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8609
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3847
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3701
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4443
  bin: 9.75e1
  variant carriers: 122
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27600
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1511
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2854
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 1
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5892
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: ATATAT
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

3-81640348-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81640348
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81640348
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 53142
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.1109-33A>G
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.986-33A>G
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  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
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3865
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23933
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4359
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
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: 4.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 258
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genotype quality: GenotypeQuality
  all individuals: 293
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genotype quality: GenotypeQuality
  all individuals: 200
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genotype quality: GenotypeQuality
  all individuals: 65
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genotype quality: GenotypeQuality
  all individuals: 3925
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3474
  num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

3-81640349-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81640349
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81640349
    reference: chr 3
allele count: 1
allele frequency: 1.903746573256168e-5
allele num: 52528
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.986-34C>T
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.1109-34C>T
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15532
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 9.75e1
  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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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3929
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 274
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 257
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  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 1.770538243626062e-4
  allele num: 5648
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

3-81640356-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81640356
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81640356
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 48802
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.1109-41T>C
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.986-41T>C
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 13823
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 9900
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 437
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 64
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7420
  num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ

3-81643015-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81643015
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81643015
    reference: chr 3
allele count: 1
allele frequency: 4.228687415426252e-5
allele num: 23648
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.1108+44C>T
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.985+44C>T
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32954
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  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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genotype depth: GenotypeDepth
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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
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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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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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 276
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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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: 578
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 1.265502404454569e-4
  allele num: 7902
  num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: MQ

3-81643049-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81643049
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81643049
    reference: chr 3
allele count: 1
allele frequency: 3.866079022655223e-5
allele num: 25866
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.1108+10C>T
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.985+10C>T
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 1.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 175
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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: 550
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 582
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 8.526603001364257e-5
  allele num: 11728
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP

3-81643050-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81643050
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81643050
    reference: chr 3
allele count: 1
allele frequency: 3.842311534619227e-5
allele num: 26026
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.1108+9C>T
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.985+9C>T
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1008
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

3-81643069-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81643069
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81643069
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 30434
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.1098C>A
  hgvsp: ENSP00000410833.2:p.His366Gln
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.975C>A
  hgvsp: ENSP00000419638.1:p.His325Gln
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 13148
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 465
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 6252
  bin: 9.75e1
  variant carriers: 0
hgvs: p.His366Gln
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1996
  num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ

3-81643084-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81643084
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81643084
    reference: chr 3
allele count: 2
allele frequency: 5.829204313611192e-5
allele num: 34310
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.1083C>T
  hgvsp: ENST00000429644.2:c.1083C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.960C>T
  hgvsp: ENST00000489715.1:c.960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 9452
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 1.75e1
  variant carriers: 0
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: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 933
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4059
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 809
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6253
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31442
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser361Ser
num of homozygotes: 0
population: African
  type: Population
  allele count: 2
  allele frequency: 5.599104143337066e-4
  allele num: 3572
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum

3-81643087-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81643087
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81643087
    reference: chr 3
allele count: 10
allele frequency: 2.841393419332841e-4
allele num: 35194
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.957G>A
  hgvsp: ENST00000489715.1:c.957G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.1080G>A
  hgvsp: ENST00000429644.2:c.1080G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8902
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33299
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 175
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 465
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 5
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1013
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genotype quality: GenotypeQuality
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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: 9
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 900
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 433
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8662
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genotype quality: GenotypeQuality
  all individuals: 4335
  bin: 6.25e1
  variant carriers: 2
hgvs: p.Thr360Thr
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2100
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD

3-81643088-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81643088
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81643088
    reference: chr 3
allele count: 1
allele frequency: 2.814206112455676e-5
allele num: 35534
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.1079C>T
  hgvsp: ENSP00000410833.2:p.Thr360Met
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.956C>T
  hgvsp: ENSP00000419638.1:p.Thr319Met
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8641
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
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genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6254
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  variant carriers: 1
hgvs: p.Thr360Met
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2266
  num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

3-81643094-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81643094
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81643094
    reference: chr 3
allele count: 2
allele frequency: 5.366534292154127e-5
allele num: 37268
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.950G>C
  hgvsp: ENSP00000419638.1:p.Gly317Ala
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.1073G>C
  hgvsp: ENSP00000410833.2:p.Gly358Ala
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1291
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3491
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 367
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genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 353
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genotype quality: GenotypeQuality
  all individuals: 585
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  variant carriers: 0
hgvs: p.Gly358Ala
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 2
  allele frequency: 2.34852043212776e-4
  allele num: 8516
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

3-81643104-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81643104
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81643104
    reference: chr 3
allele count: 2
allele frequency: 5.022349455075084e-5
allele num: 39822
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.940C>T
  hgvsp: ENSP00000419638.1:p.Arg314Cys
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.1063C>T
  hgvsp: ENSP00000410833.2:p.Arg355Cys
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 571
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 739
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg355Cys
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8612
  num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

3-81643113-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81643113
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81643113
    reference: chr 3
allele count: 1
allele frequency: 2.412428833349416e-5
allele num: 41452
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.1054G>C
  hgvsp: ENSP00000410833.2:p.Asp352His
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.931G>C
  hgvsp: ENSP00000419638.1:p.Asp311His
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6388
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32795
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1295
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 466
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 248
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genotype quality: GenotypeQuality
  all individuals: 586
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6255
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genotype quality: GenotypeQuality
  all individuals: 5843
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Asp352His
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2790
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-81643116-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81643116
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81643116
    reference: chr 3
allele count: 1
allele frequency: 2.387660570173344e-5
allele num: 41882
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.1051T>G
  hgvsp: ENSP00000410833.2:p.Phe351Val
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.928T>G
  hgvsp: ENSP00000419638.1:p.Phe310Val
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
  all individuals: 367
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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: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 1.75e1
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genotype depth: GenotypeDepth
  all individuals: 177
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genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.5e0
  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
  all individuals: 366
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 574
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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genotype quality: GenotypeQuality
  all individuals: 736
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Phe351Val
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2596
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

3-81643118-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81643118
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81643118
    reference: chr 3
allele count: 3
allele frequency: 7.158537749355731e-5
allele num: 41908
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.1049G>A
  hgvsp: ENSP00000410833.2:p.Arg350His
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.926G>A
  hgvsp: ENSP00000419638.1:p.Arg309His
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 367
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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: 409
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hgvs: p.Arg350His
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 366
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

3-81643119-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81643119
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81643119
    reference: chr 3
allele count: 1
allele frequency: 2.376990729736154e-5
allele num: 42070
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.925C>T
  hgvsp: ENSP00000419638.1:p.Arg309Cys
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.1048C>T
  hgvsp: ENSP00000410833.2:p.Arg350Cys
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype 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: 604
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg350Cys
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4346
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum

3-81643129-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81643129
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81643129
    reference: chr 3
allele count: 1
allele frequency: 2.33633942339143e-5
allele num: 42802
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.915G>A
  hgvsp: ENST00000489715.1:c.915G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.1038G>A
  hgvsp: ENST00000429644.2:c.1038G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31181
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
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genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1896
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7324
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 31036
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 6254
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 707
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 602
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu346Leu
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2866
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-81643136-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81643136
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81643136
    reference: chr 3
allele count: 2
allele frequency: 4.63284688441047e-5
allele num: 43170
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.1031G>T
  hgvsp: ENSP00000410833.2:p.Trp344Leu
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.908G>T
  hgvsp: ENSP00000419638.1:p.Trp303Leu
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6816
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 352
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3921
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6255
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1705
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 7978
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genotype quality: GenotypeQuality
  all individuals: 175
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Trp344Leu
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4416
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum

3-81643148-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81643148
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81643148
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 43248
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.1019C>A
  hgvsp: ENSP00000410833.2:p.Ser340Ter
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.896C>A
  hgvsp: ENSP00000419638.1:p.Ser299Ter
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: stop gained
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8746
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2242
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7360
  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: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
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genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2040
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 584
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser340Ter
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8802
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

3-81643157-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81643157
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81643157
    reference: chr 3
allele count: 1
allele frequency: 2.362279126901635e-5
allele num: 42332
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.1010T>A
  hgvsp: ENSP00000410833.2:p.Phe337Tyr
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.887T>A
  hgvsp: ENSP00000419638.1:p.Phe296Tyr
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 8618
  bin: 2.5e0
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genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 257
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 9.75e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 584
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe337Tyr
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4366
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

3-81643167-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81643167
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81643167
    reference: chr 3
allele count: 54111
allele frequency: 9.72799511002445e-1
allele num: 55624
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.877A>G
  hgvsp: ENSP00000419638.1:p.Ile293Val
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.1000A>G
  hgvsp: ENSP00000410833.2:p.Ile334Val
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 4.25e1
  variant carriers: 1198
genotype depth: GenotypeDepth
  all individuals: 12816
  bin: 1.25e1
  variant carriers: 12778
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 3.75e1
  variant carriers: 1020
genotype depth: GenotypeDepth
  all individuals: 3433
  bin: 1.75e1
  variant carriers: 3430
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 3.25e1
  variant carriers: 907
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 4.75e1
  variant carriers: 1148
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.75e1
  variant carriers: 289
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 225
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 173
genotype depth: GenotypeDepth
  all individuals: 24121
  bin: 7.5e0
  variant carriers: 23791
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 2.25e1
  variant carriers: 1121
genotype depth: GenotypeDepth
  all individuals: 6020
  bin: 2.5e0
  variant carriers: 5840
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 5.25e1
  variant carriers: 971
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 190
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 9.75e1
  variant carriers: 2147
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 5.75e1
  variant carriers: 639
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 199
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 6.25e1
  variant carriers: 473
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 2.75e1
  variant carriers: 774
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.25e1
  variant carriers: 164
genotype quality: GenotypeQuality
  all individuals: 9568
  bin: 2.25e1
  variant carriers: 9546
genotype quality: GenotypeQuality
  all individuals: 6605
  bin: 3.25e1
  variant carriers: 6604
genotype quality: GenotypeQuality
  all individuals: 1398
  bin: 4.25e1
  variant carriers: 1398
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 9.25e1
  variant carriers: 409
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 2.5e0
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 4.75e1
  variant carriers: 1798
genotype quality: GenotypeQuality
  all individuals: 3447
  bin: 1.25e1
  variant carriers: 3446
genotype quality: GenotypeQuality
  all individuals: 2498
  bin: 7.5e0
  variant carriers: 2419
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 8.25e1
  variant carriers: 328
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 8.75e1
  variant carriers: 249
genotype quality: GenotypeQuality
  all individuals: 4362
  bin: 2.75e1
  variant carriers: 4362
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 5.25e1
  variant carriers: 1112
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 7.75e1
  variant carriers: 303
genotype quality: GenotypeQuality
  all individuals: 9098
  bin: 1.75e1
  variant carriers: 9092
genotype quality: GenotypeQuality
  all individuals: 10557
  bin: 9.75e1
  variant carriers: 10555
genotype quality: GenotypeQuality
  all individuals: 4137
  bin: 3.75e1
  variant carriers: 4136
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 6.75e1
  variant carriers: 415
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 6.25e1
  variant carriers: 607
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 7.25e1
  variant carriers: 207
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 5.75e1
  variant carriers: 468
hgvs: p.Ile334Val
num of homozygotes: 26318
population: African
  type: Population
  allele count: 5412
  allele frequency: 9.948529411764706e-1
  allele num: 5440
  num of homozygotes: 2692
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/3-81643175-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81643175
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81643175
    reference: chr 3
allele count: 1
allele frequency: 3.214813862277374e-5
allele num: 31106
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.870-1G>T
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.993-1G>T
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: splice acceptor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 26718
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15580
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26972
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5556
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16431
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1541
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 9.75e1
  variant carriers: 1
hgvs: c.993-1G>T
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1582
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

3-81643177-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81643177
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81643177
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 29112
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.870-3T>C
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.993-3T>C
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28462
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14598
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4960
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5282
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14592
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28518
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 394
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 7.75e1
  variant carriers: 0
hgvs: c.993-3T>C
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7694
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD

3-81643186-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81643186
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81643186
    reference: chr 3
allele count: 2
allele frequency: 7.970667941973537e-5
allele num: 25092
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.993-12C>G
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.870-12C>G
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31833
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3696
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10940
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 7.75e1
  variant carriers: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 31327
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 850
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 4642
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 50
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genotype quality: GenotypeQuality
  all individuals: 1592
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 218
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 258
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 260
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP

3-81643187-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81643187
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81643187
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 24530
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.870-13T>C
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.993-13T>C
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 32414
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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 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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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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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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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7236
  num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

3-81643188-G-GAAAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81643188
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81643192
    reference: chr 3
allele count: 1
allele frequency: 4.091987887715852e-5
allele num: 24438
alternate allele: GAAAT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.993-18_993-15dupATTT
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.870-18_870-15dupATTT
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 361
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 42
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num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1824
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

3-81643193-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81643193
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81643193
    reference: chr 3
allele count: 2
allele frequency: 8.628872206402623e-5
allele num: 23178
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.993-19T>C
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.870-19T>C
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 285
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genotype depth: GenotypeDepth
  all individuals: 258
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 494
  num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

3-81643194-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81643194
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81643194
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 22892
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.870-20A>G
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.993-20A>G
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 9846
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 176
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 822
  num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/3-81643201-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81643201
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81643201
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 21658
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.870-27T>G
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.993-27T>G
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6075
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3322
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1866
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 424
  num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

3-81691888-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81691888
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81691888
    reference: chr 3
allele count: 1
allele frequency: 8.574858514834504e-6
allele num: 116620
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.586A>G
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.869+44A>G
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.992+44A>G
  variant of: http://identifiers.org/hgnc/4180
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17147
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4659
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5877
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1707
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2423
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2455
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32792
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

3-81691901-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81691901
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81691901
    reference: chr 3
allele count: 6
allele frequency: 5.106991471324243e-5
allele num: 117486
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.869+31A>G
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.992+31A>G
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.573A>G
  variant of: http://identifiers.org/hgnc/4180
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1892
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18639
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 40812
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5236
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-81691902-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81691902
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81691902
    reference: chr 3
allele count: 16
allele frequency: 1.360451669954425e-4
allele num: 117608
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.572T>C
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.869+30T>C
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.992+30T>C
  variant of: http://identifiers.org/hgnc/4180
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27417
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18723
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1207
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

3-81691924-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81691924
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81691924
    reference: chr 3
allele count: 1
allele frequency: 8.357011532675915e-6
allele num: 119660
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.869+8C>T
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.992+8C>T
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.550C>T
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29734
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
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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: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5471
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44201
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
hgvs: c.992+8C>T
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

3-81691929-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81691929
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81691929
    reference: chr 3
allele count: 2
allele frequency: 1.666805567130594e-5
allele num: 119990
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.992+3A>G
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.869+3A>G
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.545A>G
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5483
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44422
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5891
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 7.25e1
  variant carriers: 0
hgvs: c.992+3A>G
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/3-81691930-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81691930
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81691930
    reference: chr 3
allele count: 1
allele frequency: 8.330695279828055e-6
allele num: 120038
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.544T>G
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.869+2T>G
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.992+2T>G
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1359
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29916
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5890
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44474
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5484
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
hgvs: c.992+2T>G
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

3-81691934-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81691934
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81691934
    reference: chr 3
allele count: 7
allele frequency: 5.823821092216047e-5
allele num: 120196
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.867C>T
  hgvsp: ENST00000489715.1:c.867C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.990C>T
  hgvsp: ENST00000429644.2:c.990C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.540C>T
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19479
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44546
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
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genotype quality: GenotypeQuality
  all individuals: 1233
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
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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: 34
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 678
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genotype quality: GenotypeQuality
  all individuals: 5494
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5896
  bin: 9.75e1
  variant carriers: 7
hgvs: c.990C>T
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

3-81691937-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81691937
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81691937
    reference: chr 3
allele count: 6
allele frequency: 4.987697014032054e-5
allele num: 120296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.537C>T
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.987C>T
  hgvsp: ENST00000429644.2:c.987C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.864C>T
  hgvsp: ENST00000489715.1:c.864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 608
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5896
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr329Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

3-81691938-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81691938
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81691938
    reference: chr 3
allele count: 59
allele frequency: 4.90334591027708e-4
allele num: 120326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.863A>G
  hgvsp: ENSP00000419638.1:p.Tyr288Cys
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.536A>G
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.986A>G
  hgvsp: ENSP00000410833.2:p.Tyr329Cys
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19501
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44578
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5953
  bin: 9.75e1
  variant carriers: 59
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5493
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr329Cys
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

3-81691938-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81691938
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81691938
    reference: chr 3
allele count: 31
allele frequency: 2.5763342918405e-4
allele num: 120326
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.986A>C
  hgvsp: ENSP00000410833.2:p.Tyr329Ser
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.536A>C
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.863A>C
  hgvsp: ENSP00000419638.1:p.Tyr288Ser
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4113
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44578
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1235
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5953
  bin: 9.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr329Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

3-81691939-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81691939
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81691939
    reference: chr 3
allele count: 1
allele frequency: 8.309788931361144e-6
allele num: 120340
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.985T>C
  hgvsp: ENSP00000410833.2:p.Tyr329His
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.535T>C
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.862T>C
  hgvsp: ENSP00000419638.1:p.Tyr288His
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4128
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5511
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44643
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5889
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr329His
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

3-81691941-GCAAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81691941
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81691937
    reference: chr 3
allele count: 1
allele frequency: 8.307579835842223e-6
allele num: 120372
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.979_982delTTTG
  hgvsp: ENSP00000410833.2:p.Phe327ProfsTer8
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.529_532delTTTG
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.856_859delTTTG
  hgvsp: ENSP00000419638.1:p.Phe286ProfsTer8
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29972
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5888
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5509
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44644
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Phe327ProfsTer8
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: GCAAA
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

3-81691953-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81691953
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81691953
    reference: chr 3
allele count: 1
allele frequency: 8.297653423611802e-6
allele num: 120516
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.521G>A
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.971G>A
  hgvsp: ENSP00000410833.2:p.Ser324Asn
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.848G>A
  hgvsp: ENSP00000419638.1:p.Ser283Asn
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5889
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44725
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser324Asn
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

3-81691955-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81691955
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81691955
    reference: chr 3
allele count: 2
allele frequency: 1.659392994042779e-5
allele num: 120526
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.519T>C
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.969T>C
  hgvsp: ENST00000429644.2:c.969T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.846T>C
  hgvsp: ENST00000489715.1:c.846T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4139
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44719
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5890
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp323Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD

3-81691965-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81691965
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81691965
    reference: chr 3
allele count: 1
allele frequency: 8.29476268683953e-6
allele num: 120558
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.959A>G
  hgvsp: ENSP00000410833.2:p.Asp320Gly
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.509A>G
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.836A>G
  hgvsp: ENSP00000419638.1:p.Asp279Gly
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4142
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30005
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5891
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44763
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp320Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

3-81691969-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81691969
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81691969
    reference: chr 3
allele count: 4
allele frequency: 3.317739955542284e-5
allele num: 120564
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.505C>T
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.832C>T
  hgvsp: ENSP00000419638.1:p.His278Tyr
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.955C>T
  hgvsp: ENSP00000410833.2:p.His319Tyr
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5539
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5893
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44758
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His319Tyr
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

3-81691978-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81691978
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81691978
    reference: chr 3
allele count: 1
allele frequency: 8.29242404139578e-6
allele num: 120592
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.823A>G
  hgvsp: ENSP00000419638.1:p.Arg275Gly
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.946A>G
  hgvsp: ENSP00000410833.2:p.Arg316Gly
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.496A>G
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30002
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5890
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44789
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 677
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5541
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg316Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

3-81691998-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81691998
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81691998
    reference: chr 3
allele count: 1
allele frequency: 8.2936619835122e-6
allele num: 120574
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.476G>A
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.803G>A
  hgvsp: ENSP00000419638.1:p.Cys268Tyr
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.926G>A
  hgvsp: ENSP00000410833.2:p.Cys309Tyr
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29937
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19676
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5532
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 487
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44756
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5890
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Cys309Tyr
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

3-81692000-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81692000
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81692000
    reference: chr 3
allele count: 1
allele frequency: 8.29393713195654e-6
allele num: 120570
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.474C>T
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.924C>T
  hgvsp: ENST00000429644.2:c.924C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.801C>T
  hgvsp: ENST00000489715.1:c.801C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5534
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
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genotype quality: GenotypeQuality
  all individuals: 674
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 30
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser308Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

3-81692011-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81692011
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81692011
    reference: chr 3
allele count: 1
allele frequency: 8.296689620841284e-6
allele num: 120530
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.790G>C
  hgvsp: ENSP00000419638.1:p.Gly264Arg
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.913G>C
  hgvsp: ENSP00000410833.2:p.Gly305Arg
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.463G>C
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5533
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44687
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5890
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly305Arg
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

3-81692020-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81692020
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81692020
    reference: chr 3
allele count: 1
allele frequency: 8.298341991270144e-6
allele num: 120506
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.781A>G
  hgvsp: ENSP00000419638.1:p.Met261Val
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.454A>G
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.904A>G
  hgvsp: ENSP00000410833.2:p.Met302Val
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19688
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5531
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1262
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5891
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met302Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/3-81692029-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81692029
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81692029
    reference: chr 3
allele count: 1
allele frequency: 8.304130474498016e-6
allele num: 120422
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.445G>T
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.772G>T
  hgvsp: ENSP00000419638.1:p.Gly258Ter
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.895G>T
  hgvsp: ENSP00000410833.2:p.Gly299Ter
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 10
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 23
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genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5526
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5891
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 44537
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly299Ter
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

3-81692031-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81692031
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81692031
    reference: chr 3
allele count: 2
allele frequency: 1.661295145695584e-5
allele num: 120388
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.893A>G
  hgvsp: ENSP00000410833.2:p.Asp298Gly
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.770A>G
  hgvsp: ENSP00000419638.1:p.Asp257Gly
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.443A>G
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
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genotype quality: GenotypeQuality
  all individuals: 485
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 30
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44491
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genotype quality: GenotypeQuality
  all individuals: 25
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genotype quality: GenotypeQuality
  all individuals: 672
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5891
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Asp298Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

3-81692034-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81692034
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81692034
    reference: chr 3
allele count: 1
allele frequency: 8.30937463646486e-6
allele num: 120346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.440C>A
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.890C>A
  hgvsp: ENSP00000410833.2:p.Ala297Glu
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.767C>A
  hgvsp: ENSP00000419638.1:p.Ala256Glu
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29635
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 303
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 44459
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 673
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genotype quality: GenotypeQuality
  all individuals: 29
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 5512
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genotype quality: GenotypeQuality
  all individuals: 1256
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala297Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP

3-81692048-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81692048
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81692048
    reference: chr 3
allele count: 1
allele frequency: 8.33541718763024e-6
allele num: 119970
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.426T>A
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.876T>A
  hgvsp: ENST00000429644.2:c.876T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.753T>A
  hgvsp: ENST00000489715.1:c.753T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43910
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5487
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5891
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala292Ala
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

3-81692052-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81692052
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81692052
    reference: chr 3
allele count: 1
allele frequency: 8.350172848577966e-6
allele num: 119758
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.749A>G
  hgvsp: ENSP00000419638.1:p.His250Arg
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.872A>G
  hgvsp: ENSP00000410833.2:p.His291Arg
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.422A>G
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19726
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43649
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1237
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5475
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5891
  bin: 9.75e1
  variant carriers: 1
hgvs: p.His291Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

3-81692057-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81692057
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81692057
    reference: chr 3
allele count: 1
allele frequency: 8.375910880308233e-6
allele num: 119390
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.867C>T
  hgvsp: ENST00000429644.2:c.867C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.744C>T
  hgvsp: ENST00000489715.1:c.744C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.417C>T
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5430
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43194
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1223
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1065
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5891
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 3.25e1
  variant carriers: 0
hgvs: p.His289His
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

3-81692065-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81692065
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81692065
    reference: chr 3
allele count: 119
allele frequency: 1.00455850075975e-3
allele num: 118460
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.736G>C
  hgvsp: ENSP00000419638.1:p.Val246Leu
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.859G>C
  hgvsp: ENSP00000410833.2:p.Val287Leu
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.409G>C
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19700
  bin: 2.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 27402
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5978
  bin: 9.75e1
  variant carriers: 116
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5325
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42015
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val287Leu
num of homozygotes: 2
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-81692080-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81692080
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81692080
    reference: chr 3
allele count: 1
allele frequency: 8.650219715580775e-6
allele num: 115604
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.844A>G
  hgvsp: ENSP00000410833.2:p.Ile282Val
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.394A>G
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.721A>G
  hgvsp: ENSP00000419638.1:p.Ile241Val
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25218
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4091
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5042
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38906
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5868
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ile282Val
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

3-81692085-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81692085
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81692085
    reference: chr 3
allele count: 442
allele frequency: 3.860599178967595e-3
allele num: 114490
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.716G>A
  hgvsp: ENSP00000419638.1:p.Gly239Asp
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.839G>A
  hgvsp: ENSP00000410833.2:p.Gly280Asp
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.389G>A
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 3.75e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 4.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 18788
  bin: 2.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 4.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 24278
  bin: 2.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 3.25e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4969
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4838
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6190
  bin: 9.75e1
  variant carriers: 432
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 329
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly280Asp
num of homozygotes: 4
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-81692097-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81692097
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81692097
    reference: chr 3
allele count: 1
allele frequency: 9.082652134423252e-6
allele num: 110100
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.827C>G
  hgvsp: ENSP00000410833.2:p.Ala276Gly
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.377C>G
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.704C>G
  hgvsp: ENSP00000419638.1:p.Ala235Gly
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5061
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21569
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5801
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8809
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4326
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala276Gly
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

3-81692114-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81692114
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81692114
    reference: chr 3
allele count: 1
allele frequency: 9.954210631096954e-6
allele num: 100460
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.360A>G
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.687A>G
  hgvsp: ENST00000489715.1:c.687A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.810A>G
  hgvsp: ENST00000429644.2:c.810A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13034
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10147
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5796
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genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 741
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3107
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24654
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln270Gln
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

3-81692115-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81692115
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81692115
    reference: chr 3
allele count: 1
allele frequency: 9.961945368691599e-6
allele num: 100382
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.809A>T
  hgvsp: ENSP00000410833.2:p.Gln270Leu
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.359A>T
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.686A>T
  hgvsp: ENSP00000419638.1:p.Gln229Leu
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15833
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13025
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9540
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17537
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1418
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3080
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25050
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5796
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln270Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

3-81692116-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81692116
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81692116
    reference: chr 3
allele count: 4
allele frequency: 4.015741707493374e-5
allele num: 99608
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.808C>A
  hgvsp: ENSP00000410833.2:p.Gln270Lys
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.358C>A
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.685C>A
  hgvsp: ENSP00000419638.1:p.Gln229Lys
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15425
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10544
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9841
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18115
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1281
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3034
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24269
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5798
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln270Lys
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

3-81692117-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81692117
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81692117
    reference: chr 3
allele count: 1
allele frequency: 1.01114279358531e-5
allele num: 98898
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.807A>G
  hgvsp: ENST00000429644.2:c.807A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.684A>G
  hgvsp: ENST00000489715.1:c.684A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.357A>G
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10978
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18802
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 652
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23338
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
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genotype quality: GenotypeQuality
  all individuals: 5795
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 313
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2988
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1305
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 796
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu269Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

3-81692126-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81692126
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81692126
    reference: chr 3
allele count: 1
allele frequency: 1.074945177795932e-5
allele num: 93028
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.675T>A
  hgvsp: ENST00000489715.1:c.675T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.798T>A
  hgvsp: ENST00000429644.2:c.798T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.348T>A
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13699
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5794
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 325
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23464
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 305
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genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 6.75e1
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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: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
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genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 166
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genotype quality: GenotypeQuality
  all individuals: 443
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genotype quality: GenotypeQuality
  all individuals: 678
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19099
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro266Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

3-81692131-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81692131
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81692131
    reference: chr 3
allele count: 3
allele frequency: 3.392283685376996e-5
allele num: 88436
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.343A>G
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.670A>G
  hgvsp: ENSP00000419638.1:p.Thr224Ala
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.793A>G
  hgvsp: ENSP00000410833.2:p.Thr265Ala
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14383
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9198
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16063
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5795
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 27135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2105
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
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genotype quality: GenotypeQuality
  all individuals: 242
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1632
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15046
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2097
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr265Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

3-81692133-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81692133
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81692133
    reference: chr 3
allele count: 1
allele frequency: 1.153083344864167e-5
allele num: 86724
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.791G>A
  hgvsp: ENSP00000410833.2:p.Gly264Glu
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.341G>A
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.668G>A
  hgvsp: ENSP00000419638.1:p.Gly223Glu
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 13920
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5793
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly264Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

3-81692136-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81692136
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81692136
    reference: chr 3
allele count: 1
allele frequency: 1.197203333014079e-5
allele num: 83528
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.788A>G
  hgvsp: ENSP00000410833.2:p.Tyr263Cys
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.665A>G
  hgvsp: ENSP00000419638.1:p.Tyr222Cys
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.338A>G
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17832
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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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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genotype quality: GenotypeQuality
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2326
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Tyr263Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

3-81692136-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81692136
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81692135
    reference: chr 3
allele count: 1
allele frequency: 1.197203333014079e-5
allele num: 83528
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.337delT
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.664delT
  hgvsp: ENSP00000419638.1:p.Tyr222MetfsTer11
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.787delT
  hgvsp: ENSP00000410833.2:p.Tyr263MetfsTer11
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.75e1
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genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Tyr263MetfsTer11
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
reference allele: TA
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP

3-81692139-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81692139
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81692139
    reference: chr 3
allele count: 3
allele frequency: 3.677191606197294e-5
allele num: 81584
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.785G>A
  hgvsp: ENSP00000410833.2:p.Arg262His
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.335G>A
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.662G>A
  hgvsp: ENSP00000419638.1:p.Arg221His
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1660
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1758
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg262His
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD

3-81692140-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81692140
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81692140
    reference: chr 3
allele count: 2
allele frequency: 2.513004799839168e-5
allele num: 79586
alternate allele: A
annotation: Annotation
  canonical: true
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.784C>T
  hgvsp: ENSP00000410833.2:p.Arg262Cys
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.334C>T
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  clinical significance: pathogenic
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.661C>T
  hgvsp: ENSP00000419638.1:p.Arg221Cys
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16987
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5844
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5345
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3349
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9089
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2417
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 732
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5794
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Arg262Cys
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

3-81692159-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81692159
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81692159
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 59920
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.783-18T>C
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.333-18T>C
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.660-18T>C
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 16353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19226
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1860
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10934
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27955
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5792
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4000
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

3-81692164-AAAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81692164
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81692161
    reference: chr 3
allele count: 2
allele frequency: 3.59027752845295e-5
allele num: 55706
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.783-26_783-24delCTT
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.660-26_660-24delCTT
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.333-26_333-24delCTT
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19358
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14873
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 448
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  variant carriers: 1
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
  all individuals: 84
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genotype quality: GenotypeQuality
  all individuals: 330
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 448
  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: AAAG
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/3-81692176-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81692176
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81692176
    reference: chr 3
allele count: 1
allele frequency: 2.262443438914027e-5
allele num: 44200
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.660-35T>G
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.783-35T>G
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.333-35T>G
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
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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genotype quality: GenotypeQuality
  all individuals: 21
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

3-81692179-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81692179
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81692179
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 41606
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.333-38T>C
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.783-38T>C
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.660-38T>C
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15976
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8760
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21815
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2640
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1302
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17829
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15207
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5523
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5792
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3876
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

3-81692186-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 81692186
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 81692186
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 37182
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000419638
  ensembl transcript: ENST00000489715
  gene symbol: GBE1
  hgvsc: ENST00000489715.1:c.660-45C>T
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl protein: ENSP00000410833
  ensembl transcript: ENST00000429644
  gene symbol: GBE1
  hgvsc: ENST00000429644.2:c.783-45C>T
  variant of: http://identifiers.org/hgnc/4180
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000114480
  ensembl transcript: ENST00000498468
  gene symbol: GBE1
  hgvsc: ENST00000498468.1:n.333-45C>T
  variant of: http://identifiers.org/hgnc/4180
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23554
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6579
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 69
allele frequency: 1.855836471221087e-2
allele num: 3718
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 8.897383510182561e-4
allele num: 30346
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 4.716981132075472e-3
allele num: 424
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4128
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8522
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

DP
type: SiteQuality
SIO_000300: 9.0665e5

QD
type: SiteQuality
SIO_000300: 1.063e1

MQRankSum
type: SiteQuality
SIO_000300: -2.18e0

MQ
type: SiteQuality
SIO_000300: 5.186e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.52e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5680
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8066
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28282
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.220000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.62e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.88e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

DP
type: SiteQuality
SIO_000300: 8.75384e5

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7954
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3300
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

DP
type: SiteQuality
SIO_000300: 8.71967e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.94e-2

FS
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.336e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.109e0

QD
type: SiteQuality
SIO_000300: 1.165e1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 394
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25926
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3278
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.15e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

QD
type: SiteQuality
SIO_000300: 4.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.296e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.50424e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2346
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 250
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.039e0

VQSLOD
type: SiteQuality
SIO_000300: -6.589e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.45e-2

FS
type: SiteQuality
SIO_000300: 1.1649e1

QD
type: SiteQuality
SIO_000300: 1.515e1

DP
type: SiteQuality
SIO_000300: 7.33127e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 974
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1766
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7994
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.75e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.257e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.678e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.215e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.52e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.143e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.52e-1

DP
type: SiteQuality
SIO_000300: 8.21608e5

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1772
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11812
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.248751248751249e-4
allele num: 8008
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2624
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.082e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

QD
type: SiteQuality
SIO_000300: 1.943e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.67e-2

DP
type: SiteQuality
SIO_000300: 8.24439e5

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8182
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.038e1

VQSLOD
type: SiteQuality
SIO_000300: 3.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.36e-2

DP
type: SiteQuality
SIO_000300: 8.96595e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1980
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2174
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16728
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1174
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 8.470000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.909e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.84e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 6.23e-1

DP
type: SiteQuality
SIO_000300: 9.39776e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2244
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 2.184598580010923e-3
allele num: 3662
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.162520344106022e-4
allele num: 17204
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.81e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

FS
type: SiteQuality
SIO_000300: 8.597e0

DP
type: SiteQuality
SIO_000300: 9.47959e5

BaseQRankSum
type: SiteQuality
SIO_000300: -7.08e-1

QD
type: SiteQuality
SIO_000300: 1.33e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3688
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2136
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 312
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Latino
type: Population
allele count: 1
allele frequency: 7.82472613458529e-4
allele num: 1278
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South Asian
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

East Asian
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allele num: 2320
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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African
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allele count: 0
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allele num: 3872
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Other
type: Population
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2350
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -1.57e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.68e-1

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -9.619999999999999e-2

QD
type: SiteQuality
SIO_000300: 8.710000000000001e0

Other
type: Population
allele count: 0
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Latino
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allele frequency: 1.118568232662192e-3
allele num: 1788
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European (Finnish)
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African
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European (Non-Finnish)
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allele num: 19884
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East Asian
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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QD
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ClippingRankSum
type: SiteQuality
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DP
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -8.04e-2

Latino
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allele num: 1960
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European (Non-Finnish)
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Other
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South Asian
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allele num: 8722
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European (Finnish)
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African
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MQ
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

European (Non-Finnish)
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allele num: 21044
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East Asian
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allele frequency: 3.528581510232887e-4
allele num: 2834
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African
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Latino
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allele num: 2002
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Other
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allele count: 0
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South Asian
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

DP
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-2

VQSLOD
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

European (Non-Finnish)
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allele frequency: 1.424772036474164e-4
allele num: 21056
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Latino
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allele frequency: 0.0e0
allele num: 2002
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African
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allele num: 4326
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2610
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South Asian
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East Asian
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allele num: 2824
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.39e-2

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

DP
type: SiteQuality
SIO_000300: 9.92735e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.55e-1

South Asian
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allele frequency: 1.144950767117014e-4
allele num: 8734
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 21154
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Latino
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allele frequency: 0.0e0
allele num: 2034
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2604
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East Asian
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e-1

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

DP
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.09e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21592
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Other
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allele frequency: 0.0e0
allele num: 372
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South Asian
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Latino
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allele frequency: 4.672897196261682e-4
allele num: 2140
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African
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allele frequency: 0.0e0
allele num: 4380
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European (Finnish)
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allele count: 0
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allele num: 2660
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.49e-2

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.23e-1

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

European (Non-Finnish)
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allele count: 2
allele frequency: 9.166743056192135e-5
allele num: 21818
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Latino
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Other
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
allele num: 2678
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East Asian
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allele num: 2896
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.11e-1

MQ
type: SiteQuality
SIO_000300: 5.875e1

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.56e-2

DP
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FS
type: SiteQuality
SIO_000300: 4.155e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.11e-1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2910
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2724
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Latino
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African
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allele count: 0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 386
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21828
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QD
type: SiteQuality
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FS
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DP
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

European (Non-Finnish)
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allele num: 21266
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South Asian
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European (Finnish)
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Latino
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East Asian
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Other
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allele count: 0
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allele num: 382
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DP
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ReadPosRankSum
type: SiteQuality
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FS
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VQSLOD
type: SiteQuality
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QD
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InbreedingCoeff
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SIO_000300: -2.05e-2

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

South Asian
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allele frequency: 9.618113522537562e-1
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Latino
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allele frequency: 9.916890080428954e-1
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European (Finnish)
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allele frequency: 9.603351955307262e-1
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East Asian
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allele frequency: 9.997369805365597e-1
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European (Non-Finnish)
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allele count: 28108
allele frequency: 9.67839680462778e-1
allele num: 29042
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Other
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allele frequency: 9.753363228699552e-1
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VQSLOD
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MQRankSum
type: SiteQuality
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ClippingRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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FS
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ReadPosRankSum
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DP
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MQ
type: SiteQuality
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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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Other
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FS
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BaseQRankSum
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
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QD
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VQSLOD
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DP
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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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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Other
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European (Non-Finnish)
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allele num: 13722
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QD
type: SiteQuality
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FS
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InbreedingCoeff
type: SiteQuality
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MQ
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DP
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VQSLOD
type: SiteQuality
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European (Non-Finnish)
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allele count: 2
allele frequency: 1.742767514813524e-4
allele num: 11476
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Latino
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European (Finnish)
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allele num: 1882
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East Asian
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South Asian
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African
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ClippingRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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QD
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
type: SiteQuality
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MQ
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SIO_000300: 5.928e1

FS
type: SiteQuality
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DP
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Latino
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African
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European (Non-Finnish)
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allele count: 0
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Other
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allele frequency: 0.0e0
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East Asian
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European (Finnish)
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DP
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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FS
type: SiteQuality
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MQ
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QD
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ClippingRankSum
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 11120
num of homozygotes: 0

South Asian
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allele frequency: 1.383508577753182e-4
allele num: 7228
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 572
num of homozygotes: 0

VQSLOD
type: SiteQuality
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ReadPosRankSum
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.61e-1

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

European (Finnish)
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allele frequency: 0.0e0
allele num: 1770
num of homozygotes: 0

African
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allele frequency: 8.525149190110827e-4
allele num: 2346
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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
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South Asian
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allele count: 0
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

BaseQRankSum
type: SiteQuality
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MQ
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SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

FS
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.03728e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.7e-1

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 (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: 10226
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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QD
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MQ
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InbreedingCoeff
type: SiteQuality
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FS
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DP
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

South Asian
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allele frequency: 0.0e0
allele num: 6888
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 2184
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 9496
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1708
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 4.65991e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.83e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.752e1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.553518719900575e-5
allele num: 64370
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8180
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Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9242
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VQSLOD
type: SiteQuality
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e0

BaseQRankSum
type: SiteQuality
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ClippingRankSum
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SIO_000300: -2.327e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.529942e6

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 9.243283214197682e-5
allele num: 64912
num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 16336
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6572
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9332
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.516e0

MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

MQ
type: SiteQuality
SIO_000300: 5.954e1

DP
type: SiteQuality
SIO_000300: 1.594185e6

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.33e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Latino
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allele count: 4
allele frequency: 3.569516330537212e-4
allele num: 11206
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 count: 7
allele frequency: 4.283441439236323e-4
allele num: 16342
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Other
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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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European (Non-Finnish)
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allele count: 5
allele frequency: 7.696096539834996e-5
allele num: 64968
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.598362e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.725e1

FS
type: SiteQuality
SIO_000300: 1.208e0

VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.15e-2

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: 9602
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 890
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66192
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.796622097114708e-5
allele num: 11368
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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South Asian
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FS
type: SiteQuality
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DP
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SIO_000300: 1.634727e6

QD
type: SiteQuality
SIO_000300: 8.69e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.997e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.176e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.15e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 894
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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allele count: 0
allele frequency: 0.0e0
allele num: 6600
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66362
num of homozygotes: 0

Latino
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South Asian
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allele frequency: 1.214181641573579e-4
allele num: 16472
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African
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.37e-1

DP
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
SIO_000300: 1.209e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 8.755034144633164e-5
allele num: 11422
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66384
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African
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Other
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MQRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
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VQSLOD
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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Latino
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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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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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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: 7.212033793529775e-4
allele num: 9706
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South Asian
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MQRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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MQ
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FS
type: SiteQuality
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DP
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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QD
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66538
num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6602
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Other
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Latino
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East Asian
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allele frequency: 6.988120195667365e-4
allele num: 8586
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South Asian
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
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BaseQRankSum
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MQ
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VQSLOD
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QD
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 3.488574917146346e-4
allele num: 11466
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African
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South Asian
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allele frequency: 7.883565797453002e-4
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 6.160040866612579e-4
allele num: 66558
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Other
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East Asian
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
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FS
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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DP
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ClippingRankSum
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MQRankSum
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QD
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MQ
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BaseQRankSum
type: SiteQuality
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VQSLOD
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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African
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Latino
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European (Non-Finnish)
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allele frequency: 4.50734697557018e-4
allele num: 66558
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East Asian
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Other
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South Asian
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FS
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QD
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InbreedingCoeff
type: SiteQuality
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DP
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VQSLOD
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MQ
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Other
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East Asian
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Latino
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South Asian
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European (Non-Finnish)
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allele frequency: 1.502313562886846e-5
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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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BaseQRankSum
type: SiteQuality
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FS
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DP
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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VQSLOD
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QD
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MQ
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 1.514233797698365e-4
allele num: 6604
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Other
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African
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East Asian
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South Asian
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ClippingRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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DP
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FS
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MQRankSum
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VQSLOD
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QD
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GenotypeQuality
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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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allele num: 11488
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African
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European (Finnish)
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South Asian
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BaseQRankSum
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VQSLOD
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DP
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MQ
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InbreedingCoeff
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FS
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MQRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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East Asian
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South Asian
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European (Non-Finnish)
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African
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Other
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European (Finnish)
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MQRankSum
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
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FS
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DP
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ReadPosRankSum
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InbreedingCoeff
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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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South Asian
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allele frequency: 1.212268153715602e-4
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African
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Other
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.999670036296008e-5
allele num: 66674
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DP
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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QD
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.499385252046661e-5
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South Asian
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African
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Other
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Latino
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InbreedingCoeff
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QD
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ReadPosRankSum
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ClippingRankSum
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MQ
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VQSLOD
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FS
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MQRankSum
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DP
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BaseQRankSum
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

African
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South Asian
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European (Non-Finnish)
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allele num: 66678
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Latino
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allele frequency: 0.0e0
allele num: 11492
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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Other
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ReadPosRankSum
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FS
type: SiteQuality
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MQRankSum
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BaseQRankSum
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VQSLOD
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DP
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QD
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InbreedingCoeff
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MQ
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ClippingRankSum
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

East Asian
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European (Non-Finnish)
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Other
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African
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allele frequency: 1.020408163265306e-4
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European (Finnish)
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Latino
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South Asian
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VQSLOD
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MQRankSum
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FS
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InbreedingCoeff
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QD
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DP
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MQ
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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variant carriers: 0

African
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allele num: 9800
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East Asian
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South Asian
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Latino
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European (Non-Finnish)
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European (Finnish)
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Other
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QD
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FS
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InbreedingCoeff
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BaseQRankSum
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DP
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MQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQ
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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African
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East Asian
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Latino
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Other
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European (Finnish)
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ReadPosRankSum
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DP
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FS
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VQSLOD
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MQ
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QD
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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Other
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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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African
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East Asian
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BaseQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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MQRankSum
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DP
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ClippingRankSum
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MQ
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ReadPosRankSum
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QD
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GenotypeQuality
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South Asian
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Latino
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European (Non-Finnish)
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African
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Other
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European (Finnish)
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East Asian
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ClippingRankSum
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FS
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DP
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BaseQRankSum
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MQRankSum
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VQSLOD
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InbreedingCoeff
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QD
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MQ
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GenotypeQuality
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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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African
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European (Finnish)
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VQSLOD
type: SiteQuality
SIO_000300: 9.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.396e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.268e0

QD
type: SiteQuality
SIO_000300: 1.184e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.57e-1

DP
type: SiteQuality
SIO_000300: 1.643169e6

GenotypeQuality
all individuals: 353
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16430
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506795648374167e-5
allele num: 66366
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11386
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.93e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.96e-1

FS
type: SiteQuality
SIO_000300: 3.765e0

QD
type: SiteQuality
SIO_000300: 1.46e1

DP
type: SiteQuality
SIO_000300: 1.638287e6

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66254
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.026904908605463e-4
allele num: 9738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.943e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.83e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.73e-1

DP
type: SiteQuality
SIO_000300: 1.63585e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.121e1

GenotypeQuality
all individuals: 1232
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9710
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513408801985592e-5
allele num: 66076
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16344
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.19e0

VQSLOD
type: SiteQuality
SIO_000300: -1.469e0

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQ
type: SiteQuality
SIO_000300: 5.928e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.082e0

DP
type: SiteQuality
SIO_000300: 1.631947e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.686e0

GenotypeQuality
all individuals: 347
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.076165866863542e-4
allele num: 16254
num of homozygotes: 0

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

East Asian
type: Population
allele count: 111
allele frequency: 1.331893448524118e-2
allele num: 8334
num of homozygotes: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11232
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.577497024626934e-5
allele num: 65538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9644
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.46e-1

QD
type: SiteQuality
SIO_000300: 1.49e1

DP
type: SiteQuality
SIO_000300: 1.623134e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.43e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.21e-1

GenotypeQuality
all individuals: 349
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15972
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63904
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.218289085545723e-5
allele num: 10848
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8038
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6528
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.62e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 1.031e1

MQRankSum
type: SiteQuality
SIO_000300: -7.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.06e-1

DP
type: SiteQuality
SIO_000300: 1.581725e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.05e-1

GenotypeQuality
all individuals: 37861
bin: 6.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 214
allele frequency: 3.384362348178137e-3
allele num: 63232
num of homozygotes: 2

Other
type: Population
allele count: 4
allele frequency: 4.662004662004662e-3
allele num: 858
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.328218243819267e-4
allele num: 9384
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7956
num of homozygotes: 0

Latino
type: Population
allele count: 35
allele frequency: 3.274700598802395e-3
allele num: 10688
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 184
allele frequency: 2.829898492771455e-2
allele num: 6502
num of homozygotes: 2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.223e0

QD
type: SiteQuality
SIO_000300: 1.377e1

VQSLOD
type: SiteQuality
SIO_000300: 4.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.995e0

DP
type: SiteQuality
SIO_000300: 1.576622e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.38e-1

GenotypeQuality
all individuals: 33855
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.318565400843882e-4
allele num: 7584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9138
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10020
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60708
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6314
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.165e1

FS
type: SiteQuality
SIO_000300: 9.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.75e-1

DP
type: SiteQuality
SIO_000300: 1.498534e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.66e0

MQ
type: SiteQuality
SIO_000300: 5.912e1

VQSLOD
type: SiteQuality
SIO_000300: 4.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.0e-2

GenotypeQuality
all individuals: 551
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6926
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.83433570256971e-5
allele num: 14632
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5922
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55084
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.7e-2

DP
type: SiteQuality
SIO_000300: 1.343897e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

QD
type: SiteQuality
SIO_000300: 1.827e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

VQSLOD
type: SiteQuality
SIO_000300: 2.79e0

GenotypeQuality
all individuals: 737
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5918
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55032
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6908
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14636
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.654e1

MQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.94e0

VQSLOD
type: SiteQuality
SIO_000300: -1.977e0

DP
type: SiteQuality
SIO_000300: 1.343019e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

MQ
type: SiteQuality
SIO_000300: 5.787e1

GenotypeQuality
all individuals: 725
bin: 7.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6846
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5898
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.749896878867043e-4
allele num: 14546
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.801e0

DP
type: SiteQuality
SIO_000300: 1.331848e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

QD
type: SiteQuality
SIO_000300: 1.187e1

GenotypeQuality
all individuals: 327
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54202
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6788
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5856
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.909894969596462e-5
allele num: 14472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.511e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

FS
type: SiteQuality
SIO_000300: 5.47e-1

DP
type: SiteQuality
SIO_000300: 1.318858e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.94e0

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.258e0

GenotypeQuality
all individuals: 500
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7628
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13974
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.966800409094485e-5
allele num: 50844
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8000
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6284
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.375e0

DP
type: SiteQuality
SIO_000300: 1.233748e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

QD
type: SiteQuality
SIO_000300: 1.124e1

VQSLOD
type: SiteQuality
SIO_000300: -1.74e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 333
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.224324660774306e-5
allele num: 48198
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7040
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5362
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5920
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

FS
type: SiteQuality
SIO_000300: 7.824e0

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

QD
type: SiteQuality
SIO_000300: 1.565e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

DP
type: SiteQuality
SIO_000300: 1.161212e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-1

GenotypeQuality
all individuals: 373
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.733102253032929e-4
allele num: 5770
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47178
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6806
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5304
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.742000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 1.05e-1

QD
type: SiteQuality
SIO_000300: 1.462e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.441e0

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

DP
type: SiteQuality
SIO_000300: 1.141603e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.24e-1

GenotypeQuality
all individuals: 602
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13204
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5162
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.210237821589603e-5
allele num: 45244
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.93e-1

FS
type: SiteQuality
SIO_000300: 5.367e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

DP
type: SiteQuality
SIO_000300: 1.093662e6

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

QD
type: SiteQuality
SIO_000300: 1.432e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

GenotypeQuality
all individuals: 491
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5162
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.375515818431912e-4
allele num: 7270
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13204
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.17e-1

FS
type: SiteQuality
SIO_000300: 5.367e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.97e0

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

QD
type: SiteQuality
SIO_000300: 1.432e1

MQRankSum
type: SiteQuality
SIO_000300: 7.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.093662e6

GenotypeQuality
all individuals: 463
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 205
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6252
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13042
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.860119047619048e-4
allele num: 5376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.267573696145125e-5
allele num: 44100
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.40805406927626e-4
allele num: 7102
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5050
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

FS
type: SiteQuality
SIO_000300: 4.252e0

DP
type: SiteQuality
SIO_000300: 1.070951e6

QD
type: SiteQuality
SIO_000300: 1.345e1

GenotypeQuality
all individuals: 276
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6992
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12844
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 4.657228017883756e-5
allele num: 42944
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4946
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5162
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 6054
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.198e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.41e0

FS
type: SiteQuality
SIO_000300: 8.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e0

DP
type: SiteQuality
SIO_000300: 1.045741e6

GenotypeQuality
all individuals: 438
bin: 9.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 5526
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 528
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11246
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3648
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 31404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3952
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.401e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.04e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.03e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 8.69924e5

GenotypeQuality
all individuals: 439
bin: 9.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3712
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5150
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3174
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3064
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10874
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.84369011771147e-5
allele num: 29224
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

DP
type: SiteQuality
SIO_000300: 8.38389e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e-1

FS
type: SiteQuality
SIO_000300: 2.889e0

VQSLOD
type: SiteQuality
SIO_000300: 2.36e0

MQ
type: SiteQuality
SIO_000300: 5.566e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.41e-2

QD
type: SiteQuality
SIO_000300: 1.652e1

GenotypeQuality
all individuals: 438
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1730
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2170
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4196
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 4.390586582367404e-5
allele num: 22776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3018
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.798e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 7.70821e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.05e0

QD
type: SiteQuality
SIO_000300: 1.188e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 1

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9674
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 21150
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1996
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1558
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2846
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.604e1

VQSLOD
type: SiteQuality
SIO_000300: -5.747e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.52e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 7.58304e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1