http://identifiers.org/exac.variant/1-45347463-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45347463
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45347463
    reference: chr 1
allele count: 3
allele frequency: 2.481676951838923e-5
allele num: 120886
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.657-52G>T
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.119-52G>T
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.657-52G>T
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7674
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1758
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4267
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4299
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1477
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2388
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27825
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 949
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3871
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4065
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2314
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-45362976-A-AAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45362976
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45362978
    reference: chr 1
allele count: 1
allele frequency: 9.836710603974032e-6
allele num: 101660
alternate allele: AAC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.656+50_656+51insGT
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.118+50_118+51insGT
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.656+50_656+51insGT
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13084
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7251
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7700
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6802
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2143
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4902
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 3276
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4218
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 9383
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3366
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-45362979-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45362979
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45362979
    reference: chr 1
allele count: 1
allele frequency: 9.853770052422056e-6
allele num: 101484
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.118+48C>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.656+48C>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.656+48C>G
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17600
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8873
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12357
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1602
  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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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: 290
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum

1-45362983-CTTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45362983
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45362980
    reference: chr 1
allele count: 1
allele frequency: 9.837097662705596e-6
allele num: 101656
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.118+41_118+43delCAA
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.656+41_656+43delCAA
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.656+41_656+43delCAA
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8585
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8823
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10718
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9388
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: CTTG
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

1-45362984-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45362984
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45362984
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 101906
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.656+43A>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.118+43A>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.656+43A>G
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 8828
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9148
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4144
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3079
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8090
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1781
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4159
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7642
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7668
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9396
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

1-45362984-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45362984
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45362984
    reference: chr 1
allele count: 7
allele frequency: 6.869075422448138e-5
allele num: 101906
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.118+43A>C
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.656+43A>C
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.656+43A>C
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10197
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8828
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17490
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9148
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3079
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7157
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4159
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9396
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4144
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7668
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1781
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8090
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7642
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-45362986-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45362986
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45362986
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 101814
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.118+41C>A
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.656+41C>A
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.656+41C>A
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8814
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7589
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2024
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8284
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9389
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2971
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: African
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

1-45362992-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45362992
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45362992
    reference: chr 1
allele count: 72670
allele frequency: 6.588634220642634e-1
allele num: 110296
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.656+35A>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.656+35A>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.118+35A>G
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 8.75e1
  variant carriers: 508
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 4.25e1
  variant carriers: 725
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 9.75e1
  variant carriers: 2849
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 3.75e1
  variant carriers: 1152
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.75e1
  variant carriers: 581
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.25e1
  variant carriers: 469
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.25e1
  variant carriers: 507
genotype depth: GenotypeDepth
  all individuals: 13767
  bin: 1.75e1
  variant carriers: 12622
genotype depth: GenotypeDepth
  all individuals: 10892
  bin: 2.25e1
  variant carriers: 8876
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 5.75e1
  variant carriers: 518
genotype depth: GenotypeDepth
  all individuals: 4166
  bin: 7.5e0
  variant carriers: 2546
genotype depth: GenotypeDepth
  all individuals: 12538
  bin: 1.25e1
  variant carriers: 9943
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 3.25e1
  variant carriers: 2101
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 2.75e1
  variant carriers: 4659
genotype depth: GenotypeDepth
  all individuals: 642
  bin: 7.75e1
  variant carriers: 615
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 4.75e1
  variant carriers: 550
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.25e1
  variant carriers: 627
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 8.25e1
  variant carriers: 570
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.25e1
  variant carriers: 537
genotype quality: GenotypeQuality
  all individuals: 2747
  bin: 5.25e1
  variant carriers: 2586
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 7.25e1
  variant carriers: 905
genotype quality: GenotypeQuality
  all individuals: 28918
  bin: 9.75e1
  variant carriers: 28224
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 1.25e1
  variant carriers: 211
genotype quality: GenotypeQuality
  all individuals: 1323
  bin: 2.75e1
  variant carriers: 628
genotype quality: GenotypeQuality
  all individuals: 2993
  bin: 3.75e1
  variant carriers: 2174
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 7.5e0
  variant carriers: 180
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 6.75e1
  variant carriers: 1812
genotype quality: GenotypeQuality
  all individuals: 1241
  bin: 8.25e1
  variant carriers: 1177
genotype quality: GenotypeQuality
  all individuals: 4354
  bin: 6.25e1
  variant carriers: 2134
genotype quality: GenotypeQuality
  all individuals: 776
  bin: 2.5e0
  variant carriers: 148
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 8.75e1
  variant carriers: 687
genotype quality: GenotypeQuality
  all individuals: 2720
  bin: 3.25e1
  variant carriers: 1682
genotype quality: GenotypeQuality
  all individuals: 2916
  bin: 4.75e1
  variant carriers: 2582
genotype quality: GenotypeQuality
  all individuals: 1716
  bin: 4.25e1
  variant carriers: 1409
genotype quality: GenotypeQuality
  all individuals: 2223
  bin: 2.25e1
  variant carriers: 760
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 7.75e1
  variant carriers: 1339
genotype quality: GenotypeQuality
  all individuals: 551
  bin: 1.75e1
  variant carriers: 383
genotype quality: GenotypeQuality
  all individuals: 781
  bin: 9.25e1
  variant carriers: 720
num of homozygotes: 24785
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

1-45362995-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45362995
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45362995
    reference: chr 1
allele count: 3
allele frequency: 2.675800064219202e-5
allele num: 112116
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.656+32A>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.118+32A>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.656+32A>G
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12333
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8327
  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 5300
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 874
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-45363001-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45363001
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45363001
    reference: chr 1
allele count: 1
allele frequency: 8.907257633519791e-6
allele num: 112268
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.656+26A>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.656+26A>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.118+26A>G
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16619
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 2442
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-45363010-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45363010
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45363010
    reference: chr 1
allele count: 2
allele frequency: 1.767471455335996e-5
allele num: 113156
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.656+17T>C
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.656+17T>C
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.118+17T>C
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype 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
  all individuals: 774
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/1-45363013-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45363013
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45363013
    reference: chr 1
allele count: 1
allele frequency: 8.810883202932263e-6
allele num: 113496
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.656+14T>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.656+14T>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.118+14T>G
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7987
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

1-45363021-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45363021
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45363021
    reference: chr 1
allele count: 1
allele frequency: 8.736829229935872e-6
allele num: 114458
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.118+6A>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.656+6A>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.656+6A>G
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
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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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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4074
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1934
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2495
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5289
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35449
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 7.75e1
  variant carriers: 0
hgvs: c.656+6A>G
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/1-45363028-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45363028
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45363028
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 115274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.655G>T
  hgvsp: ENSP00000361257.3:p.Gly219Trp
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.655G>T
  hgvsp: ENSP00000353575.2:p.Gly219Trp
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.117G>T
  hgvsp: ENSP00000396985.1:p.Gly40Trp
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 4002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28491
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3716
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 285
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 37953
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5288
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly219Trp
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

1-45363028-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45363028
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45363028
    reference: chr 1
allele count: 1
allele frequency: 8.674983083782986e-6
allele num: 115274
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.655G>C
  hgvsp: ENSP00000361257.3:p.Gly219Arg
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.655G>C
  hgvsp: ENSP00000353575.2:p.Gly219Arg
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.117G>C
  hgvsp: ENSP00000396985.1:p.Gly40Arg
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1635
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4151
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 37953
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 555
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 837
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3716
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1343
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 835
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 534
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genotype quality: GenotypeQuality
  all individuals: 285
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 741
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly219Arg
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

1-45363041-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45363041
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45363041
    reference: chr 1
allele count: 1
allele frequency: 8.573241199567908e-6
allele num: 116642
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.642C>T
  hgvsp: ENST00000360403.2:c.642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.104C>T
  hgvsp: ENST00000439363.1:c.104C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.642C>T
  hgvsp: ENST00000372183.3:c.642C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12713
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30839
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 841
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.25e1
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genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4324
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  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
  all individuals: 12
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 494
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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: 542
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genotype quality: GenotypeQuality
  all individuals: 41281
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Phe214Phe
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

1-45363049-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45363049
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45363049
    reference: chr 1
allele count: 5
allele frequency: 4.267158243296294e-5
allele num: 117174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.96G>A
  hgvsp: ENSP00000396985.1:p.Val33Met
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.634G>A
  hgvsp: ENSP00000361257.3:p.Val212Met
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.634G>A
  hgvsp: ENSP00000353575.2:p.Val212Met
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31732
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4145
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13017
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2701
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43067
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4366
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 855
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Val212Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

1-45363050-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45363050
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45363050
    reference: chr 1
allele count: 505
allele frequency: 4.305640815769729e-3
allele num: 117288
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.633C>T
  hgvsp: ENST00000360403.2:c.633C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.633C>T
  hgvsp: ENST00000372183.3:c.633C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.95C>T
  hgvsp: ENST00000439363.1:c.95C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13093
  bin: 2.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 1.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 31669
  bin: 2.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 9.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 1.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 4.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4186
  bin: 3.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 3.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 149
genotype quality: GenotypeQuality
  all individuals: 4351
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2653
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 43030
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5527
  bin: 9.75e1
  variant carriers: 478
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile211Ile
num of homozygotes: 14
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

1-45363075-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45363075
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45363075
    reference: chr 1
allele count: 1
allele frequency: 8.573976267233693e-6
allele num: 116632
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.70A>G
  hgvsp: ENSP00000396985.1:p.His24Arg
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.608A>G
  hgvsp: ENSP00000361257.3:p.His203Arg
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.608A>G
  hgvsp: ENSP00000353575.2:p.His203Arg
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30185
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13728
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5210
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4415
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41967
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His203Arg
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

1-45363078-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45363078
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45363078
    reference: chr 1
allele count: 62
allele frequency: 5.388305638601126e-4
allele num: 115064
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.605C>G
  hgvsp: ENSP00000353575.2:p.Ala202Gly
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.67C>G
  hgvsp: ENSP00000396985.1:p.Ala23Gly
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.605C>G
  hgvsp: ENSP00000361257.3:p.Ala202Gly
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28984
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 13751
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 4.25e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 3.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4940
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 755
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 2.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 3.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 40540
  bin: 6.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 4591
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 8.75e1
  variant carriers: 1
hgvs: p.Ala202Gly
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/1-45363079-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45363079
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45363079
    reference: chr 1
allele count: 2
allele frequency: 1.720903818685574e-5
allele num: 116218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.604G>T
  hgvsp: ENSP00000361257.3:p.Ala202Ser
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.604G>T
  hgvsp: ENSP00000353575.2:p.Ala202Ser
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.66G>T
  hgvsp: ENSP00000396985.1:p.Ala23Ser
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14253
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42105
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4467
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4553
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4946
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala202Ser
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/1-45363084-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45363084
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45363084
    reference: chr 1
allele count: 1
allele frequency: 8.66190839165685e-6
allele num: 115448
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.61T>G
  hgvsp: ENSP00000396985.1:p.Val21Gly
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.599T>G
  hgvsp: ENSP00000361257.3:p.Val200Gly
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.599T>G
  hgvsp: ENSP00000353575.2:p.Val200Gly
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27727
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
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genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 778
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 163
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5734
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 4411
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40987
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val200Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS

1-45363092-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45363092
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45363092
    reference: chr 1
allele count: 172
allele frequency: 1.534070638601498e-3
allele num: 112120
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.53G>A
  hgvsp: ENST00000439363.1:c.53G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.591G>A
  hgvsp: ENST00000372183.3:c.591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.591G>A
  hgvsp: ENST00000360403.2:c.591G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 3.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 22441
  bin: 2.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 3.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 13695
  bin: 2.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 211
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5100
  bin: 9.75e1
  variant carriers: 170
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34740
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10465
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3893
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 456
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr197Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

1-45363093-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45363093
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45363093
    reference: chr 1
allele count: 8
allele frequency: 7.13865043813467e-5
allele num: 112066
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.590C>T
  hgvsp: ENSP00000361257.3:p.Thr197Met
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.590C>T
  hgvsp: ENSP00000353575.2:p.Thr197Met
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.52C>T
  hgvsp: ENSP00000396985.1:p.Thr18Met
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6672
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13821
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  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
  all individuals: 4939
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 455
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genotype quality: GenotypeQuality
  all individuals: 344
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 626
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 10530
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 186
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genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 690
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr197Met
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

1-45363093-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45363093
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45363093
    reference: chr 1
allele count: 3
allele frequency: 2.676993914300502e-5
allele num: 112066
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.590C>A
  hgvsp: ENSP00000361257.3:p.Thr197Lys
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.590C>A
  hgvsp: ENSP00000353575.2:p.Thr197Lys
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.52C>A
  hgvsp: ENSP00000396985.1:p.Thr18Lys
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13821
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22433
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
  all individuals: 6672
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4939
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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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: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 626
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr197Lys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-45363099-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45363099
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45363099
    reference: chr 1
allele count: 1
allele frequency: 9.054034477763291e-6
allele num: 110448
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.584T>G
  hgvsp: ENSP00000361257.3:p.Phe195Cys
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.584T>G
  hgvsp: ENSP00000353575.2:p.Phe195Cys
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.46T>G
  hgvsp: ENSP00000396985.1:p.Phe16Cys
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13382
  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Phe195Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

1-45363102-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45363102
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45363102
    reference: chr 1
allele count: 4
allele frequency: 3.700277520814061e-5
allele num: 108100
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.581G>A
  hgvsp: ENSP00000361257.3:p.Arg194His
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.581G>A
  hgvsp: ENSP00000353575.2:p.Arg194His
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.43G>A
  hgvsp: ENSP00000396985.1:p.Arg15His
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype 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: 626
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg194His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD

1-45363109-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45363109
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45363109
    reference: chr 1
allele count: 1
allele frequency: 9.884157672083184e-6
allele num: 101172
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.574A>G
  hgvsp: ENSP00000353575.2:p.Arg192Gly
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.574A>G
  hgvsp: ENSP00000361257.3:p.Arg192Gly
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.36A>G
  hgvsp: ENSP00000396985.1:p.Arg13Gly
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9340
  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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genotype depth: GenotypeDepth
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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
  all individuals: 567
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  variant carriers: 0
hgvs: p.Arg192Gly
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

1-45363111-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45363111
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45363111
    reference: chr 1
allele count: 1
allele frequency: 1.018661885746883e-5
allele num: 98168
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.34C>G
  hgvsp: ENSP00000396985.1:p.Pro12Arg
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.572C>G
  hgvsp: ENSP00000353575.2:p.Pro191Arg
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.572C>G
  hgvsp: ENSP00000361257.3:p.Pro191Arg
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17392
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4921
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro191Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-45363120-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45363120
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45363120
    reference: chr 1
allele count: 1
allele frequency: 1.194771679132118e-5
allele num: 83698
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.567-4G>T
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.567-4G>T
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.29-4G>T
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14960
  bin: 7.5e0
  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
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  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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genotype quality: GenotypeQuality
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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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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4917
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.75e1
  variant carriers: 0
hgvs: c.567-4G>T
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum

1-45363128-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45363128
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45363128
    reference: chr 1
allele count: 3
allele frequency: 4.326132725752026e-5
allele num: 69346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.29-12A>T
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.567-12A>T
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.567-12A>T
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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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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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: 2723
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

1-45363128-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45363128
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45363128
    reference: chr 1
allele count: 2
allele frequency: 2.884088483834684e-5
allele num: 69346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.567-12A>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.567-12A>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.29-12A>G
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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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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  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-45363130-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45363130
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45363130
    reference: chr 1
allele count: 1
allele frequency: 1.415989351760075e-5
allele num: 70622
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.567-14T>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.567-14T>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.29-14T>G
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 848
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/1-45363132-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45363132
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45363132
    reference: chr 1
allele count: 1
allele frequency: 1.556274900398406e-5
allele num: 64256
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.567-16T>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.29-16T>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.567-16T>G
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19826
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 379
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD

1-45363135-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45363135
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45363135
    reference: chr 1
allele count: 2
allele frequency: 3.250235642084051e-5
allele num: 61534
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.567-19A>T
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.567-19A>T
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.29-19A>T
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 5.25e1
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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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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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  bin: 6.25e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 96
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

1-45363135-TAAAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45363135
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45363131
    reference: chr 1
allele count: 2
allele frequency: 3.250235642084051e-5
allele num: 61534
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.567-23_567-20delTTTT
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.29-23_29-20delTTTT
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.567-23_567-20delTTTT
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2135
  bin: 1.75e1
  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
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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: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 378
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  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: TAAAA
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

1-45363136-AAAAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45363136
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45363132
    reference: chr 1
allele count: 1
allele frequency: 1.766097983116103e-5
allele num: 56622
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.567-24_567-21delCTTT
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.29-24_29-21delCTTT
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.567-24_567-21delCTTT
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: AAAAG
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

1-45363140-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45363140
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45363139
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 50414
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.29-25delT
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.567-25delT
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.567-25delT
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12944
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20981
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25709
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13840
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2145
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2065
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4910
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: GA
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-45363145-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45363145
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45363145
    reference: chr 1
allele count: 1
allele frequency: 2.232641214556821e-5
allele num: 44790
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.29-29T>C
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.567-29T>C
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.567-29T>C
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4045
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 740
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4911
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 22734
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2086
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15573
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1705
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

1-45363154-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45363154
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45363154
    reference: chr 1
allele count: 5
allele frequency: 1.343219428325811e-4
allele num: 37224
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.567-38C>T
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.29-38C>T
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.567-38C>T
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9082
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16628
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23800
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16818
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1939
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1799
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  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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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4915
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 435
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: DP

1-45392252-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45392252
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45392252
    reference: chr 1
allele count: 1
allele frequency: 8.390528771123156e-6
allele num: 119182
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000480675
  gene symbol: EIF2B3
  hgvsc: ENST00000480675.1:n.749+48A>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.566+48A>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.566+48A>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.28+48A>G
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8064
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2175
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17168
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 418
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 89
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genotype quality: GenotypeQuality
  all individuals: 425
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3540
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 823
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7048
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

1-45392253-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45392253
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45392253
    reference: chr 1
allele count: 2
allele frequency: 1.679543164259321e-5
allele num: 119080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.28+47C>A
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000480675
  gene symbol: EIF2B3
  hgvsc: ENST00000480675.1:n.749+47C>A
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.566+47C>A
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.566+47C>A
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11313
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2507
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 360
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7003
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3505
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3260
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-45392254-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45392254
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45392254
    reference: chr 1
allele count: 2
allele frequency: 1.678077594307961e-5
allele num: 119184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000480675
  gene symbol: EIF2B3
  hgvsc: ENST00000480675.1:n.749+46A>T
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.566+46A>T
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.28+46A>T
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.566+46A>T
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14134
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2176
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6685
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4312
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 7040
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 825
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 280
  bin: 5.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13373
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

1-45392261-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45392261
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45392261
    reference: chr 1
allele count: 1
allele frequency: 8.381948635418762e-6
allele num: 119304
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.566+39T>C
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.28+39T>C
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.566+39T>C
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000480675
  gene symbol: EIF2B3
  hgvsc: ENST00000480675.1:n.749+39T>C
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14478
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13380
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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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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-45392270-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45392270
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45392270
    reference: chr 1
allele count: 1
allele frequency: 8.357151214294072e-6
allele num: 119658
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.566+30T>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.28+30T>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000480675
  gene symbol: EIF2B3
  hgvsc: ENST00000480675.1:n.749+30T>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.566+30T>G
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 6.75e1
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genotype depth: GenotypeDepth
  all individuals: 276
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 989
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
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genotype depth: GenotypeDepth
  all individuals: 399
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
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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
  all individuals: 4358
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13394
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genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

1-45392271-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45392271
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45392271
    reference: chr 1
allele count: 1
allele frequency: 8.355335717389125e-6
allele num: 119684
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.566+29A>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.28+29A>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000480675
  gene symbol: EIF2B3
  hgvsc: ENST00000480675.1:n.749+29A>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.566+29A>G
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4403
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3577
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4357
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22266
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1847
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2534
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3324
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

1-45392308-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45392308
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45392308
    reference: chr 1
allele count: 1
allele frequency: 8.300546175938376e-6
allele num: 120474
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.20C>A
  hgvsp: ENST00000439363.1:c.20C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000477953
  gene symbol: EIF2B3
  hgvsc: ENST00000477953.1:n.820C>A
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.558C>A
  hgvsp: ENST00000360403.2:c.558C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.558C>A
  hgvsp: ENST00000372183.3:c.558C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000480675
  gene symbol: EIF2B3
  hgvsc: ENST00000480675.1:n.741C>A
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12064
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11783
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4426
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3367
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13412
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4408
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23315
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ile186Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP

1-45392314-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45392314
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45392314
    reference: chr 1
allele count: 1
allele frequency: 8.298066550493736e-6
allele num: 120510
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.552A>T
  hgvsp: ENST00000372183.3:c.552A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.552A>T
  hgvsp: ENST00000360403.2:c.552A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000477953
  gene symbol: EIF2B3
  hgvsc: ENST00000477953.1:n.814A>T
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000396985
  ensembl transcript: ENST00000439363
  gene symbol: EIF2B3
  hgvsc: ENST00000439363.1:c.14A>T
  hgvsp: ENST00000439363.1:c.14A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000480675
  gene symbol: EIF2B3
  hgvsc: ENST00000480675.1:n.735A>T
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6790
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12068
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 990
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2181
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3366
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1854
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13411
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7515
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly184Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

1-45392364-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45392364
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45392364
    reference: chr 1
allele count: 7
allele frequency: 5.822367873837606e-5
allele num: 120226
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000480675
  gene symbol: EIF2B3
  hgvsc: ENST00000480675.1:n.685C>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.502C>G
  hgvsp: ENSP00000353575.2:p.Leu168Val
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.502C>G
  hgvsp: ENSP00000361257.3:p.Leu168Val
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000477953
  gene symbol: EIF2B3
  hgvsc: ENST00000477953.1:n.764C>G
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12081
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4383
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 101
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23284
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7499
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3343
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2521
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13248
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu168Val
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

1-45392369-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45392369
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45392369
    reference: chr 1
allele count: 8
allele frequency: 6.638343069569835e-5
allele num: 120512
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000480675
  gene symbol: EIF2B3
  hgvsc: ENST00000480675.1:n.680G>A
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000477953
  gene symbol: EIF2B3
  hgvsc: ENST00000477953.1:n.759G>A
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.497G>A
  hgvsp: ENSP00000353575.2:p.Arg166Lys
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.497G>A
  hgvsp: ENSP00000361257.3:p.Arg166Lys
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15310
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11722
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3359
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3588
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23414
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4403
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13331
  bin: 9.75e1
  variant carriers: 8
hgvs: p.Arg166Lys
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/1-45392400-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45392400
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45392400
    reference: chr 1
allele count: 1
allele frequency: 8.307441806370146e-6
allele num: 120374
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000477953
  gene symbol: EIF2B3
  hgvsc: ENST00000477953.1:n.728G>T
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.466G>T
  hgvsp: ENSP00000361257.3:p.Asp156Tyr
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000480675
  gene symbol: EIF2B3
  hgvsc: ENST00000480675.1:n.649G>T
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.466G>T
  hgvsp: ENSP00000353575.2:p.Asp156Tyr
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3360
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23257
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3586
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7559
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp156Tyr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-45392400-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45392400
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45392400
    reference: chr 1
allele count: 1
allele frequency: 8.307441806370146e-6
allele num: 120374
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000477953
  gene symbol: EIF2B3
  hgvsc: ENST00000477953.1:n.728G>A
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000480675
  gene symbol: EIF2B3
  hgvsc: ENST00000480675.1:n.649G>A
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.466G>A
  hgvsp: ENSP00000353575.2:p.Asp156Asn
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.466G>A
  hgvsp: ENSP00000361257.3:p.Asp156Asn
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6805
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13326
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genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7559
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23257
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 575
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asp156Asn
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

1-45392402-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45392402
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45392402
    reference: chr 1
allele count: 47
allele frequency: 3.9044327772978e-4
allele num: 120376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000477953
  gene symbol: EIF2B3
  hgvsc: ENST00000477953.1:n.726G>A
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.464G>A
  hgvsp: ENSP00000353575.2:p.Arg155His
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.464G>A
  hgvsp: ENSP00000361257.3:p.Arg155His
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000480675
  gene symbol: EIF2B3
  hgvsc: ENST00000480675.1:n.647G>A
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 11532
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6800
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4438
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15307
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12152
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3354
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4390
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genotype quality: GenotypeQuality
  all individuals: 88
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genotype quality: GenotypeQuality
  all individuals: 1841
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 3580
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23252
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg155His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

1-45392403-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45392403
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45392403
    reference: chr 1
allele count: 1
allele frequency: 8.308684236764266e-6
allele num: 120356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.463C>T
  hgvsp: ENSP00000361257.3:p.Arg155Cys
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000477953
  gene symbol: EIF2B3
  hgvsc: ENST00000477953.1:n.725C>T
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.463C>T
  hgvsp: ENSP00000353575.2:p.Arg155Cys
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000480675
  gene symbol: EIF2B3
  hgvsc: ENST00000480675.1:n.646C>T
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4444
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6807
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4398
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3584
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7549
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13321
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg155Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

1-45392407-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45392407
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45392407
    reference: chr 1
allele count: 1
allele frequency: 8.3099270388406e-6
allele num: 120338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.459G>A
  hgvsp: ENST00000372183.3:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000477953
  gene symbol: EIF2B3
  hgvsc: ENST00000477953.1:n.721G>A
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000480675
  gene symbol: EIF2B3
  hgvsc: ENST00000480675.1:n.642G>A
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.459G>A
  hgvsp: ENST00000360403.2:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6806
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7545
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3357
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23224
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4397
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13320
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3585
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu153Glu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

1-45392422-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45392422
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45392422
    reference: chr 1
allele count: 2
allele frequency: 1.669365474183263e-5
allele num: 119806
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000480675
  gene symbol: EIF2B3
  hgvsc: ENST00000480675.1:n.638-11G>C
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.455-11G>C
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000477953
  gene symbol: EIF2B3
  hgvsc: ENST00000477953.1:n.717-11G>C
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.455-11G>C
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12169
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15273
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4453
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1839
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13321
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3327
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21718
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2530
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4375
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3572
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

1-45392427-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45392427
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45392428
    reference: chr 1
allele count: 281
allele frequency: 2.693531689735823e-3
allele num: 104324
alternate allele: GA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.455-17dupT
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000477953
  gene symbol: EIF2B3
  hgvsc: ENST00000477953.1:n.717-17dupT
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000480675
  gene symbol: EIF2B3
  hgvsc: ENST00000480675.1:n.638-17dupT
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.455-17dupT
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 4.25e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 10178
  bin: 3.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 6539
  bin: 2.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 7.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 12570
  bin: 2.75e1
  variant carriers: 87
genotype depth: GenotypeDepth
  all individuals: 6385
  bin: 3.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 5.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 5.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 6.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 6.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 8.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 4.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 1.25e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 4408
  bin: 2.5e0
  variant carriers: 53
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 5.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2804
  bin: 7.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2396
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5476
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 9.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 7.5e0
  variant carriers: 77
genotype quality: GenotypeQuality
  all individuals: 2437
  bin: 2.25e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 2.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 1.75e1
  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 6283
  bin: 9.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 4.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 4.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 3.75e1
  variant carriers: 31
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

1-45392427-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45392427
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45392426
    reference: chr 1
allele count: 463
allele frequency: 4.438096698746214e-3
allele num: 104324
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.455-17delT
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.455-17delT
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000477953
  gene symbol: EIF2B3
  hgvsc: ENST00000477953.1:n.717-17delT
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000480675
  gene symbol: EIF2B3
  hgvsc: ENST00000480675.1:n.638-17delT
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 4.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 5.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 6385
  bin: 3.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 6539
  bin: 2.25e1
  variant carriers: 62
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 4.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 12570
  bin: 2.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 9.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 8.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 7.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 5.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 10178
  bin: 3.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 6.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 7.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 7.5e0
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 4408
  bin: 2.5e0
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 5476
  bin: 6.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 2.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 8.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 2437
  bin: 2.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 4.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 3.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 4.25e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 2396
  bin: 7.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 1.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 6283
  bin: 9.75e1
  variant carriers: 181
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 1.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 8.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 17382
  bin: 6.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 3.25e1
  variant carriers: 29
num of homozygotes: 1
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: GA
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

1-45392427-GAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45392427
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45392425
    reference: chr 1
allele count: 2
allele frequency: 1.917104405505924e-5
allele num: 104324
alternate allele: G
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6385
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1586
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1142
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12570
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6283
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2162
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1625
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1138
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1720
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1447
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2437
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1140
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1201
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17382
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4408
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5476
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2396
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2804
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 56876
  num of homozygotes: 0
population: African
  type: Population
  allele count: 2
  allele frequency: 2.286236854138089e-4
  allele num: 8748
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 774
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 14340
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
reference allele: GAA
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

1-45392438-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45392438
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45392437
    reference: chr 1
allele count: 1
allele frequency: 8.439958137807636e-6
allele num: 118484
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000477953
  gene symbol: EIF2B3
  hgvsc: ENST00000477953.1:n.717-28delG
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000480675
  gene symbol: EIF2B3
  hgvsc: ENST00000480675.1:n.638-28delG
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.455-28delG
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.455-28delG
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 988
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17696
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13793
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2610
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3063
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7745
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3646
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7901
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26144
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1731
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: TC
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/1-45392445-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45392445
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45392445
    reference: chr 1
allele count: 1
allele frequency: 8.469982382436644e-6
allele num: 118064
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.455-34T>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.455-34T>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000477953
  gene symbol: EIF2B3
  hgvsc: ENST00000477953.1:n.717-34T>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000480675
  gene symbol: EIF2B3
  hgvsc: ENST00000480675.1:n.638-34T>G
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4929
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5435
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5598
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3336
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6567
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2567
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7888
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2856
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2165
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21760
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum

1-45392446-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45392446
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45392446
    reference: chr 1
allele count: 1
allele frequency: 8.473858147614609e-6
allele num: 118010
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000480675
  gene symbol: EIF2B3
  hgvsc: ENST00000480675.1:n.638-35T>C
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.455-35T>C
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000477953
  gene symbol: EIF2B3
  hgvsc: ENST00000477953.1:n.717-35T>C
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.455-35T>C
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1702
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5512
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 474
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3251
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2279
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5561
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21039
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7887
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2854
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2384
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3507
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1334
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2724
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3381
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2602
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

1-45392452-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45392452
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45392452
    reference: chr 1
allele count: 1
allele frequency: 8.535627710061798e-6
allele num: 117156
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000477953
  gene symbol: EIF2B3
  hgvsc: ENST00000477953.1:n.717-41A>C
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.455-41A>C
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.455-41A>C
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000480675
  gene symbol: EIF2B3
  hgvsc: ENST00000480675.1:n.638-41A>C
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7035
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9177
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1715
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 532
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1986
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3920
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2706
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  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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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7880
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2756
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

1-45392454-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45392454
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45392454
    reference: chr 1
allele count: 4
allele frequency: 3.422547744541036e-5
allele num: 116872
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.455-43C>A
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000480675
  gene symbol: EIF2B3
  hgvsc: ENST00000480675.1:n.638-43C>A
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000477953
  gene symbol: EIF2B3
  hgvsc: ENST00000477953.1:n.717-43C>A
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.455-43C>A
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2257
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1505
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4981
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7929
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8718
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3056
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2570
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5630
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

1-45392462-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45392462
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45392462
    reference: chr 1
allele count: 4
allele frequency: 3.44892996947697e-5
allele num: 115978
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000480675
  gene symbol: EIF2B3
  hgvsc: ENST00000480675.1:n.638-51A>T
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.455-51A>T
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.455-51A>T
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000477953
  gene symbol: EIF2B3
  hgvsc: ENST00000477953.1:n.717-51A>T
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1693
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11480
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2241
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4954
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7303
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  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: 2
genotype depth: GenotypeDepth
  all individuals: 509
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 9.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 4397
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2572
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum

1-45406346-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45406346
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45406346
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 16
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.454+832C>A
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.454+832C>A
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000477953
  gene symbol: EIF2B3
  hgvsc: ENST00000477953.1:n.624+832C>A
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361256
  ensembl transcript: ENST00000372182
  gene symbol: EIF2B3
  hgvsc: ENST00000372182.4:c.547C>A
  hgvsp: ENSP00000361256.4:p.Leu183Ile
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000480675
  gene symbol: EIF2B3
  hgvsc: ENST00000480675.1:n.637+832C>A
  variant of: http://identifiers.org/hgnc/3259
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4714
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu183Ile
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

1-45406392-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45406392
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45406392
    reference: chr 1
allele count: 8
allele frequency: 2.5e-1
allele num: 32
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.454+786C>T
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.454+786C>T
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361256
  ensembl transcript: ENST00000372182
  gene symbol: EIF2B3
  hgvsc: ENST00000372182.4:c.501C>T
  hgvsp: ENST00000372182.4:c.501C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000480675
  gene symbol: EIF2B3
  hgvsc: ENST00000480675.1:n.637+786C>T
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000477953
  gene symbol: EIF2B3
  hgvsc: ENST00000477953.1:n.624+786C>T
  variant of: http://identifiers.org/hgnc/3259
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 189
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 234
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 2.25e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 1.25e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 4005
  bin: 7.5e0
  variant carriers: 94
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 6.25e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 6.75e1
  variant carriers: 9
hgvs: p.Leu167Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

1-45406446-AAAAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45406446
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45406442
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 2
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361256
  ensembl transcript: ENST00000372182
  gene symbol: EIF2B3
  hgvsc: ENST00000372182.4:c.455-12_455-9delCTTT
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.454+728_454+731delCTTT
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000477953
  gene symbol: EIF2B3
  hgvsc: ENST00000477953.1:n.624+728_624+731delCTTT
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.454+728_454+731delCTTT
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000480675
  gene symbol: EIF2B3
  hgvsc: ENST00000480675.1:n.637+728_637+731delCTTT
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2780
  bin: 7.5e0
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: AAAAG
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

1-45406460-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45406460
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45406460
    reference: chr 1
allele count: 0
allele frequency: NaN
allele num: 0
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000477953
  gene symbol: EIF2B3
  hgvsc: ENST00000477953.1:n.624+718C>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000480675
  gene symbol: EIF2B3
  hgvsc: ENST00000480675.1:n.637+718C>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.454+718C>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361256
  ensembl transcript: ENST00000372182
  gene symbol: EIF2B3
  hgvsc: ENST00000372182.4:c.455-22C>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.454+718C>G
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3348
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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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 quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

1-45407138-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45407138
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45407138
    reference: chr 1
allele count: 5
allele frequency: 4.324137334601747e-5
allele num: 115630
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.454+40G>A
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000480675
  gene symbol: EIF2B3
  hgvsc: ENST00000480675.1:n.637+40G>A
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000477953
  gene symbol: EIF2B3
  hgvsc: ENST00000477953.1:n.624+40G>A
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361256
  ensembl transcript: ENST00000372182
  gene symbol: EIF2B3
  hgvsc: ENST00000372182.4:c.454+40G>A
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.454+40G>A
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6010
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6736
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 605
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3398
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3000
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35515
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 890
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3229
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD

1-45407139-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45407139
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45407139
    reference: chr 1
allele count: 9
allele frequency: 7.7724234416291e-5
allele num: 115794
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.454+39C>T
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000477953
  gene symbol: EIF2B3
  hgvsc: ENST00000477953.1:n.624+39C>T
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361256
  ensembl transcript: ENST00000372182
  gene symbol: EIF2B3
  hgvsc: ENST00000372182.4:c.454+39C>T
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.454+39C>T
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000480675
  gene symbol: EIF2B3
  hgvsc: ENST00000480675.1:n.637+39C>T
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6015
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6743
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4730
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7458
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2168
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3447
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3004
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2765
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD

http://identifiers.org/exac.variant/1-45407150-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45407150
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45407150
    reference: chr 1
allele count: 1
allele frequency: 8.58663918942126e-6
allele num: 116460
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.454+28T>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000480675
  gene symbol: EIF2B3
  hgvsc: ENST00000480675.1:n.637+28T>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000477953
  gene symbol: EIF2B3
  hgvsc: ENST00000477953.1:n.624+28T>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361256
  ensembl transcript: ENST00000372182
  gene symbol: EIF2B3
  hgvsc: ENST00000372182.4:c.454+28T>G
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.454+28T>G
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4732
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6011
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5552
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7450
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6754
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2306
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1820
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4241
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3457
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35523
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

1-45407156-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45407156
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45407156
    reference: chr 1
allele count: 11
allele frequency: 9.408303255272926e-5
allele num: 116918
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000477953
  gene symbol: EIF2B3
  hgvsc: ENST00000477953.1:n.624+22T>C
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361256
  ensembl transcript: ENST00000372182
  gene symbol: EIF2B3
  hgvsc: ENST00000372182.4:c.454+22T>C
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.454+22T>C
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.454+22T>C
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000480675
  gene symbol: EIF2B3
  hgvsc: ENST00000480675.1:n.637+22T>C
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 291
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6013
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4658
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3459
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
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genotype quality: GenotypeQuality
  all individuals: 2871
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genotype quality: GenotypeQuality
  all individuals: 3046
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 73
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1833
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 310
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 1
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-45407165-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45407165
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45407165
    reference: chr 1
allele count: 5
allele frequency: 4.243185444176652e-5
allele num: 117836
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000480675
  gene symbol: EIF2B3
  hgvsc: ENST00000480675.1:n.637+13G>T
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.454+13G>T
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.454+13G>T
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000477953
  gene symbol: EIF2B3
  hgvsc: ENST00000477953.1:n.624+13G>T
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361256
  ensembl transcript: ENST00000372182
  gene symbol: EIF2B3
  hgvsc: ENST00000372182.4:c.454+13G>T
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6762
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  variant carriers: 1
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
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3464
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5316
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35530
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2964
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3074
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

1-45407166-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45407166
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45407166
    reference: chr 1
allele count: 2
allele frequency: 1.695288792445793e-5
allele num: 117974
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000477953
  gene symbol: EIF2B3
  hgvsc: ENST00000477953.1:n.624+12T>C
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361257
  ensembl transcript: ENST00000372183
  gene symbol: EIF2B3
  hgvsc: ENST00000372183.3:c.454+12T>C
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000353575
  ensembl transcript: ENST00000360403
  gene symbol: EIF2B3
  hgvsc: ENST00000360403.2:c.454+12T>C
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361256
  ensembl transcript: ENST00000372182
  gene symbol: EIF2B3
  hgvsc: ENST00000372182.4:c.454+12T>C
  variant of: http://identifiers.org/hgnc/3259
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl transcript: ENST00000480675
  gene symbol: EIF2B3
  hgvsc: ENST00000480675.1:n.637+12T>C
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7455
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 913
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6011
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4736
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3075
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2971
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5381
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3462
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-45407167-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 45407167
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 45407167
    reference: chr 1
allele count: 1
allele frequency: 8.468978133098461e-6
allele num: 118078
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000070785
  ensembl protein: ENSP00000361256
  ensembl transcript: ENST00000372182
  gene symbol: EIF2B3
  hgvsc: ENST00000372182.4:c.454+11T>C
  variant of: http://identifiers.org/hgnc/3259
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 1935
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.508295263284443e-5
allele num: 66544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.675725e6

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.013e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.758e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.36e-1

FS
type: SiteQuality
SIO_000300: 2.302e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

GenotypeQuality
all individuals: 4222
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9246
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6008
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.361655773420479e-4
allele num: 7344
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54778
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14314
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.101e0

MQRankSum
type: SiteQuality
SIO_000300: -3.575e0

VQSLOD
type: SiteQuality
SIO_000300: 7.19e-1

DP
type: SiteQuality
SIO_000300: 1.534358e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.43e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 5.98e0

MQ
type: SiteQuality
SIO_000300: 5.336e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

GenotypeQuality
all individuals: 1850
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.828889132740773e-5
allele num: 54678
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7328
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14294
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9226
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5996
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.43e-1

FS
type: SiteQuality
SIO_000300: 9.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.69e-1

DP
type: SiteQuality
SIO_000300: 1.53783e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

QD
type: SiteQuality
SIO_000300: 1.315e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.102e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

GenotypeQuality
all individuals: 7179
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.824418010654601e-5
allele num: 54812
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5996
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7338
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9234
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.924e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.31e0

DP
type: SiteQuality
SIO_000300: 1.548664e6

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

FS
type: SiteQuality
SIO_000300: 2.535e0

QD
type: SiteQuality
SIO_000300: 2.069e1

GenotypeQuality
all individuals: 294
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54958
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9266
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6018
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.284e1

DP
type: SiteQuality
SIO_000300: 1.551861e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.055e0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 934
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7362
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6018
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.27369991629972e-4
allele num: 54958
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14336
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

QD
type: SiteQuality
SIO_000300: 1.284e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e-1

DP
type: SiteQuality
SIO_000300: 1.551861e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.055e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 941
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6006
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7354
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: 14344
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9240
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9214
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.55899e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

QD
type: SiteQuality
SIO_000300: 4.65e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.434e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1407
bin: 5.75e1
variant carriers: 1305

European (Finnish)
type: Population
allele count: 3262
allele frequency: 5.302340702210663e-1
allele num: 6152
num of homozygotes: 846

South Asian
type: Population
allele count: 10096
allele frequency: 6.594382756368387e-1
allele num: 15310
num of homozygotes: 3307

Latino
type: Population
allele count: 8481
allele frequency: 8.086384439359268e-1
allele num: 10488
num of homozygotes: 3435

East Asian
type: Population
allele count: 7991
allele frequency: 9.733252131546895e-1
allele num: 8210
num of homozygotes: 3887

Other
type: Population
allele count: 487
allele frequency: 5.953545232273839e-1
allele num: 818
num of homozygotes: 143

African
type: Population
allele count: 8943
allele frequency: 9.077344701583435e-1
allele num: 9852
num of homozygotes: 4065

European (Non-Finnish)
type: Population
allele count: 33410
allele frequency: 5.618336528436417e-1
allele num: 59466
num of homozygotes: 9102

ClippingRankSum
type: SiteQuality
SIO_000300: -2.26e-1

FS
type: SiteQuality
SIO_000300: 7.38e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.047e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.8e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e0

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.27e-1

DP
type: SiteQuality
SIO_000300: 1.830856e6

QD
type: SiteQuality
SIO_000300: 2.578e1

GenotypeQuality
all individuals: 495
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.604902667627974e-4
allele num: 8322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60920
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6296
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9846
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10660
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15242
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.27e-1

QD
type: SiteQuality
SIO_000300: 1.46e1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 61028
num of homozygotes: 0

Latino
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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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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

East Asian
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allele frequency: 1.201056930098487e-4
allele num: 8326
num of homozygotes: 0

FS
type: SiteQuality
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BaseQRankSum
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MQRankSum
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VQSLOD
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ClippingRankSum
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DP
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MQ
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
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allele frequency: 0.0e0
allele num: 15310
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 10796
num of homozygotes: 0

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

East Asian
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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: 61648
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 2.025111381125962e-4
allele num: 9876
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
type: SiteQuality
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FS
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ClippingRankSum
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DP
type: SiteQuality
SIO_000300: 1.474279e6

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

South Asian
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allele frequency: 0.0e0
allele num: 15324
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9890
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6344
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Latino
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allele frequency: 0.0e0
allele num: 10832
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.615822130299897e-5
allele num: 61888
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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MQ
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ClippingRankSum
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MQRankSum
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QD
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ReadPosRankSum
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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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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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 62548
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Latino
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allele frequency: 9.16254352208173e-5
allele num: 10914
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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DP
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MQRankSum
type: SiteQuality
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VQSLOD
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.795e1

QD
type: SiteQuality
SIO_000300: 1.001e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
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allele frequency: 0.0e0
allele num: 9956
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8454
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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QD
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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allele count: 1
allele frequency: 1.004419445560466e-4
allele num: 9956
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10986
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63132
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15480
num of homozygotes: 0

InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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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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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 4.84e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15668
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.009009009009009e-5
allele num: 11100
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10030
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64014
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.515e0

DP
type: SiteQuality
SIO_000300: 1.605055e6

MQRankSum
type: SiteQuality
SIO_000300: -6.65e-1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.95e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-2

GenotypeQuality
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bin: 9.75e1
variant carriers: 5

European (Non-Finnish)
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allele count: 4
allele frequency: 6.210215804999224e-5
allele num: 64410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
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East Asian
type: Population
allele count: 0
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allele num: 8514
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African
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allele count: 1
allele frequency: 9.942334460131238e-5
allele num: 10058
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11130
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6466
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South Asian
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allele count: 0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.27e-1

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.619893e6

MQRankSum
type: SiteQuality
SIO_000300: 2.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.71e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 2

South Asian
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allele count: 488
allele frequency: 3.091346762954517e-2
allele num: 15786
num of homozygotes: 14

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.97827258035554e-5
allele num: 11138
num of homozygotes: 0

Other
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allele count: 8
allele frequency: 9.153318077803204e-3
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East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 1
allele frequency: 9.942334460131238e-5
allele num: 10058
num of homozygotes: 0

European (Non-Finnish)
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allele count: 7
allele frequency: 1.086146971201589e-4
allele num: 64448
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.27e-1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

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

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

Other
type: Population
allele count: 0
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allele num: 868
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Latino
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allele frequency: 9.038322487346348e-5
allele num: 11064
num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64060
num of homozygotes: 0

East Asian
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allele count: 0
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FS
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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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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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 2

African
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allele frequency: 1.434720229555237e-3
allele num: 9758
num of homozygotes: 0

East Asian
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allele count: 3
allele frequency: 3.559563360227812e-4
allele num: 8428
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11000
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European (Non-Finnish)
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allele count: 33
allele frequency: 5.222841225626741e-4
allele num: 63184
num of homozygotes: 0

European (Finnish)
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allele count: 11
allele frequency: 1.76678445229682e-3
allele num: 6226
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.187648456057007e-3
allele num: 842
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

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

Other
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African
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East Asian
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Latino
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63790
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South Asian
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allele count: 2
allele frequency: 1.278772378516624e-4
allele num: 15640
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
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allele count: 1
allele frequency: 1.578831033502794e-5
allele num: 63338
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
allele num: 9932
num of homozygotes: 0

East Asian
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allele num: 8432
num of homozygotes: 0

South Asian
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allele count: 0
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Latino
type: Population
allele count: 0
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Other
type: Population
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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FS
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GenotypeQuality
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variant carriers: 0

East Asian
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allele num: 8224
num of homozygotes: 0

European (Finnish)
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allele count: 67
allele frequency: 1.058451816745656e-2
allele num: 6330
num of homozygotes: 0

African
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South Asian
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allele count: 9
allele frequency: 5.939025999736043e-4
allele num: 15154
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10528
num of homozygotes: 0

European (Non-Finnish)
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allele count: 90
allele frequency: 1.468285043069695e-3
allele num: 61296
num of homozygotes: 0

Other
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allele count: 6
allele frequency: 7.159904534606206e-3
allele num: 838
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.523746e6

MQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.56e0

VQSLOD
type: SiteQuality
SIO_000300: 5.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.93e-1

QD
type: SiteQuality
SIO_000300: 1.345e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8226
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10522
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.025430680885972e-4
allele num: 9752
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6326
num of homozygotes: 0

South Asian
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allele count: 6
allele frequency: 3.966155473294553e-4
allele num: 15128
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.632066849458154e-5
allele num: 61272
num of homozygotes: 0

QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.091e0

MQRankSum
type: SiteQuality
SIO_000300: -1.05e-1

DP
type: SiteQuality
SIO_000300: 1.521616e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.62e-1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.896200548374461e-5
allele num: 61272
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8226
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9752
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6326
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10522
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 15128
num of homozygotes: 0

DP
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.162e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.62e-1

VQSLOD
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MQ
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.975e0

QD
type: SiteQuality
SIO_000300: 1.133e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6260
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.659420530350801e-5
allele num: 60262
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 14996
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8130
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.37e-1

MQ
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SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.219e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e0

DP
type: SiteQuality
SIO_000300: 1.486924e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

Latino
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allele count: 2
allele frequency: 1.986886548778065e-4
allele num: 10066
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.399857205997348e-5
allele num: 58826
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6164
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14762
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African
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

MQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e-1

DP
type: SiteQuality
SIO_000300: 1.443027e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e-1

FS
type: SiteQuality
SIO_000300: 5.94e0

QD
type: SiteQuality
SIO_000300: 1.15e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 7.053180984624065e-5
allele num: 14178
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9140
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 54786
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.316088e6

VQSLOD
type: SiteQuality
SIO_000300: 5.47e-1

QD
type: SiteQuality
SIO_000300: 1.27e1

FS
type: SiteQuality
SIO_000300: 5.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.58e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.880618347312596e-5
allele num: 53174
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8730
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: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 750
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MQRankSum
type: SiteQuality
SIO_000300: -6.42e-1

FS
type: SiteQuality
SIO_000300: 6.085e0

QD
type: SiteQuality
SIO_000300: 1.536e1

DP
type: SiteQuality
SIO_000300: 1.265354e6

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.697e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.325e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4936
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 7.801529099703542e-5
allele num: 12818
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 44952
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7308
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 3.877e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.96e-1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

MQ
type: SiteQuality
SIO_000300: 5.995e1

DP
type: SiteQuality
SIO_000300: 1.073589e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.63e-1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 5.492694716027683e-5
allele num: 36412
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4254
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South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 560
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African
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allele frequency: 1.627074520013016e-4
allele num: 6146
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4696
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5680
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.58e-2

FS
type: SiteQuality
SIO_000300: 1.3351e1

VQSLOD
type: SiteQuality
SIO_000300: -8.413e-1

ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 9.42638e5

QD
type: SiteQuality
SIO_000300: 4.05e0

MQRankSum
type: SiteQuality
SIO_000300: -9.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.98e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6146
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 3.52112676056338e-4
allele num: 5680
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4696
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4254
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 560
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 36412
num of homozygotes: 0

South Asian
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allele count: 0
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allele num: 11598
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.58e-2

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4334
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Latino
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African
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Other
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European (Non-Finnish)
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allele count: 1
allele frequency: 2.688172043010753e-5
allele num: 37200
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South Asian
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.36e-2

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

South Asian
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Other
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African
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European (Non-Finnish)
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allele frequency: 2.985609362870962e-5
allele num: 33494
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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East Asian
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Latino
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allele num: 5026
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

DP
type: SiteQuality
SIO_000300: 8.91823e5

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
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QD
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 0

European (Finnish)
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allele num: 3886
num of homozygotes: 0

East Asian
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Other
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allele frequency: 0.0e0
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Latino
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African
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South Asian
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European (Non-Finnish)
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allele frequency: 6.260956674179814e-5
allele num: 31944
num of homozygotes: 0

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

South Asian
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allele num: 10930
num of homozygotes: 0

European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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allele num: 31944
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Other
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allele num: 502
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Latino
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allele frequency: 2.110595187842972e-4
allele num: 4738
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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MQ
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DP
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MQRankSum
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.179999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.81e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3604
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4132
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.558401835213153e-5
allele num: 10462
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 480
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5148
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 29146
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.21e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.111e1

FS
type: SiteQuality
SIO_000300: 2.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.24e0

MQRankSum
type: SiteQuality
SIO_000300: -1.297e0

DP
type: SiteQuality
SIO_000300: 8.4286e5

MQ
type: SiteQuality
SIO_000300: 5.767e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9934
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3314
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3388
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3134
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.437e0

VQSLOD
type: SiteQuality
SIO_000300: -3.823e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.84e0

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.984e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.74e-2

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.471472008585226e-5
allele num: 22364
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4270
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2670
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3048
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2604
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.073e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.613e1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -6.516999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.78e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.371e0

DP
type: SiteQuality
SIO_000300: 7.77313e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

European (Finnish)
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allele count: 3
allele frequency: 1.162790697674419e-3
allele num: 2580
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.105827712042464e-4
allele num: 18086
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1726
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8848
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1968
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.163e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.37e-2

QD
type: SiteQuality
SIO_000300: 8.210000000000001e0

DP
type: SiteQuality
SIO_000300: 7.3293e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Other
type: Population
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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num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.922603691208574e-5
allele num: 10078
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65526
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16348
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 2.00053e6

VQSLOD
type: SiteQuality
SIO_000300: -6.791e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.17e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.372e1

MQ
type: SiteQuality
SIO_000300: 5.846e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.085e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

MQRankSum
type: SiteQuality
SIO_000300: 2.18e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527790509365356e-5
allele num: 65454
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.934432743890324e-5
allele num: 10066
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 6.04e0

MQ
type: SiteQuality
SIO_000300: 5.231e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.00209e6

FS
type: SiteQuality
SIO_000300: 1.9077e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.883e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.77e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.892e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10080
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.052316708381662e-5
allele num: 65524
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8364
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.14e-1

QD
type: SiteQuality
SIO_000300: 1.292e1

MQRankSum
type: SiteQuality
SIO_000300: -6.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

DP
type: SiteQuality
SIO_000300: 2.003445e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.51e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 1
allele frequency: 9.908838684106223e-5
allele num: 10092
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

Other
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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
allele num: 16358
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65590
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.020673e6

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.03e-1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65800
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10128
num of homozygotes: 0

Latino
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allele frequency: 8.758101243650377e-5
allele num: 11418
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.398e1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 3.67e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
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allele frequency: 6.109481915933529e-5
allele num: 16368
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11416
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.07e0

DP
type: SiteQuality
SIO_000300: 2.041658e6

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

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66224
num of homozygotes: 0

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

Latino
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East Asian
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South Asian
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Other
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African
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allele frequency: 9.798157946306095e-5
allele num: 10206
num of homozygotes: 0

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.03e-1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

East Asian
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Other
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European (Non-Finnish)
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African
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.965e1

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8612
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African
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allele frequency: 1.979414093428345e-4
allele num: 10104
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.562694739389539e-5
allele num: 66114
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.905e0

QD
type: SiteQuality
SIO_000300: 2.0e-1

DP
type: SiteQuality
SIO_000300: 2.065955e6

MQ
type: SiteQuality
SIO_000300: 5.825e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.477e0

VQSLOD
type: SiteQuality
SIO_000300: -2.846e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 7.180500000000001e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.58e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66244
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 9.285051067780873e-4
allele num: 8616
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.134e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

FS
type: SiteQuality
SIO_000300: 2.526e0

QD
type: SiteQuality
SIO_000300: 1.069e1

DP
type: SiteQuality
SIO_000300: 2.059515e6

MQ
type: SiteQuality
SIO_000300: 5.92e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66162
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.706251088281386e-5
allele num: 11486
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.056634e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.993e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.09e-1

QD
type: SiteQuality
SIO_000300: 1.059e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511441613010489e-5
allele num: 66162
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 9.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.44e-1

DP
type: SiteQuality
SIO_000300: 2.056634e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.87e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.059e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.993e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 47

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.838646202282565e-5
allele num: 10164
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 46
allele frequency: 6.952211105401566e-4
allele num: 66166
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 2.058862e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.359e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66150
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.083465141744738e-5
allele num: 16438
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DP
type: SiteQuality
SIO_000300: 2.056778e6

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 5.174e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.39e-1

QD
type: SiteQuality
SIO_000300: 1.325e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.083465141744738e-5
allele num: 16438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66140
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10158
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.627e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.64e0

MQRankSum
type: SiteQuality
SIO_000300: -4.43e-1

DP
type: SiteQuality
SIO_000300: 2.056039e6

QD
type: SiteQuality
SIO_000300: 1.485e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.25e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

VQSLOD
type: SiteQuality
SIO_000300: 9.67e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.172882946281961e-4
allele num: 8526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65882
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10052
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South Asian
type: Population
allele count: 1
allele frequency: 6.098304671301378e-5
allele num: 16398
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

MQ
type: SiteQuality
SIO_000300: 5.936e1

QD
type: SiteQuality
SIO_000300: 1.663e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -9.5e-2

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.047783e6

GenotypeQuality
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variant carriers: 39

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 17

East Asian
type: Population
allele count: 14
allele frequency: 1.822442072376985e-3
allele num: 7682
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.976775049767751e-4
allele num: 6028
num of homozygotes: 0

Latino
type: Population
allele count: 27
allele frequency: 2.733900364520049e-3
allele num: 9876
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 5.16795865633075e-3
allele num: 774
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 113
allele frequency: 1.986778254448273e-3
allele num: 56876
num of homozygotes: 0

African
type: Population
allele count: 27
allele frequency: 3.08641975308642e-3
allele num: 8748
num of homozygotes: 0

South Asian
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allele count: 93
allele frequency: 6.485355648535565e-3
allele num: 14340
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.61e0

VQSLOD
type: SiteQuality
SIO_000300: 3.48e0

MQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.75e-2

DP
type: SiteQuality
SIO_000300: 2.398287e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.46e-1

GenotypeQuality
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variant carriers: 13

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 11

South Asian
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allele count: 16
allele frequency: 1.115760111576011e-3
allele num: 14340
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 5.16795865633075e-3
allele num: 774
num of homozygotes: 0

African
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allele count: 27
allele frequency: 3.08641975308642e-3
allele num: 8748
num of homozygotes: 0

East Asian
type: Population
allele count: 82
allele frequency: 1.067430356677948e-2
allele num: 7682
num of homozygotes: 1

Latino
type: Population
allele count: 19
allele frequency: 1.923855812069664e-3
allele num: 9876
num of homozygotes: 0

European (Non-Finnish)
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allele count: 312
allele frequency: 5.485617835290808e-3
allele num: 56876
num of homozygotes: 0

European (Finnish)
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allele count: 3
allele frequency: 4.976775049767751e-4
allele num: 6028
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.75e-2

QD
type: SiteQuality
SIO_000300: 1.61e0

MQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.46e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -4.89e-1

DP
type: SiteQuality
SIO_000300: 2.398287e6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6028
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7682
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9876
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.398287e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.75e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.46e-1

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

East Asian
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allele num: 8392
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African
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allele frequency: 0.0e0
allele num: 9876
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Latino
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.535815210713847e-5
allele num: 65112
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.931e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
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African
type: Population
allele count: 0
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East Asian
type: Population
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16216
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540120129370091e-5
allele num: 64930
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e0

MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -2.989e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.36e-1

FS
type: SiteQuality
SIO_000300: 4.082e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

DP
type: SiteQuality
SIO_000300: 1.825349e6

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.1667488899852e-5
allele num: 16216
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64902
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11358
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8248
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.774e-1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -9.52e-1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9680
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11312
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64428
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.191183754333828e-5
allele num: 16152
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.984e1

FS
type: SiteQuality
SIO_000300: 3.901e0

VQSLOD
type: SiteQuality
SIO_000300: 9.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.4e-1

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

QD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 6.195019204559534e-5
allele num: 16142
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8114
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.67013294311778e-5
allele num: 64238
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11286
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.607e0

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.225e0

DP
type: SiteQuality
SIO_000300: 1.73357e6

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.731e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

QD
type: SiteQuality
SIO_000300: 2.835e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.097e0

MQRankSum
type: SiteQuality
SIO_000300: 2.3e-1

GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11174
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8026
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9550
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South Asian
type: Population
allele count: 4
allele frequency: 2.49221183800623e-4
allele num: 16050
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 63758
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 6.820000000000001e-1

QD
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MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.68e0

FS
type: SiteQuality
SIO_000300: 2.202e0

DP
type: SiteQuality
SIO_000300: 1.702932e6

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.32e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: NaN
allele num: 0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

Other
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allele count: 0
allele frequency: NaN
allele num: 0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.799e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQRankSum
type: SiteQuality
SIO_000300: -1.754e0

DP
type: SiteQuality
SIO_000300: 1.4931e4

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.370000000000001e-1

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -9.859999999999999e-2

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 17

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
all individuals: 111
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variant carriers: 55

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.5e-1
allele num: 12
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.5e-1
allele num: 8
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.666666666666667e-1
allele num: 6
num of homozygotes: 0

African
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allele count: 1
allele frequency: 2.5e-1
allele num: 4
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 5.0e-1
allele num: 2
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.7458e4

VQSLOD
type: SiteQuality
SIO_000300: 5.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.98e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.67e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.906e1

VQSLOD
type: SiteQuality
SIO_000300: 3.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

FS
type: SiteQuality
SIO_000300: 6.860000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.191e1

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.64e-2

DP
type: SiteQuality
SIO_000300: 8.462e3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
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Other
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

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

Other
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allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

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

Latino
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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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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.646896889242346e-5
allele num: 65386
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e-1

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
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VQSLOD
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

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

African
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allele frequency: 3.875217981011432e-4
allele num: 10322
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 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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South Asian
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allele frequency: 4.020585397233837e-4
allele num: 12436
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.925924e6

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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African
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Other
type: Population
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East Asian
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South Asian
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allele frequency: 7.744733581164808e-5
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European (Non-Finnish)
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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DP
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ClippingRankSum
type: SiteQuality
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MQRankSum
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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VQSLOD
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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South Asian
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Latino
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allele frequency: 8.667013347200555e-4
allele num: 11538
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European (Non-Finnish)
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allele frequency: 1.522811719558994e-5
allele num: 65668
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East Asian
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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MQ
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MQRankSum
type: SiteQuality
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ClippingRankSum
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FS
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3272
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65842
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.817883985353633e-4
allele num: 10378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13932
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.435e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.66e0

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

QD
type: SiteQuality
SIO_000300: 1.252e1

DP
type: SiteQuality
SIO_000300: 2.955947e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.887e0

GenotypeQuality
all individuals: 369
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1723
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3274
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2039
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35529
bin: 9.75e1
variant carriers: 2

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14026
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.035638394754417e-5
allele num: 65884
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.12e-1

DP
type: SiteQuality
SIO_000300: 2.957218e6

QD
type: SiteQuality
SIO_000300: 1.072e1

MQRankSum
type: SiteQuality
SIO_000300: -6.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.65e-2

FS
type: SiteQuality
SIO_000300: 1.983e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.127e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.78e-1